Property Summary

NCBI Gene PubMed Count 907
PubMed Score 1849.32
PubTator Score 5448.54

Knowledge Summary


No data available


  Disease (5)

Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0


  Differential Expression (4)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.216 1.1e-02
Multiple myeloma 2.221 2.5e-04
pancreatic ductal adenocarcinoma liver m... -1.429 3.0e-02
ovarian cancer 1.900 4.9e-04


Accession P00441 A6NHJ0 D3DSE4 Q16669 Q16711 Q16838 Q16839 Q16840 Q6NR85
Symbols ALS


PANTHER Protein Class (1)


1AZV   1BA9   1DSW   1FUN   1HL4   1HL5   1KMG   1L3N   1MFM   1N18   1N19   1OEZ   1OZT   1OZU   1P1V   1PTZ   1PU0   1RK7   1SOS   1SPD   1UXL   1UXM   2AF2   2C9S   2C9U   2C9V   2GBT   2GBU   2GBV   2LU5   2MP3   2NNX   2R27   2V0A   2VR6   2VR7   2VR8   2WKO   2WYT   2WYZ   2WZ0   2WZ5   2WZ6   2XJK   2XJL   2ZKW   2ZKX   2ZKY   3CQP   3CQQ   3ECU   3ECV   3ECW   3GQF   3GTV   3GZO   3GZP   3GZQ   3H2P   3H2Q   3HFF   3K91   3KH3   3KH4   3LTV   3QQD   3RE0   3T5W   4A7G   4A7Q   4A7S   4A7T   4A7U   4A7V   4B3E   4BCY   4BCZ   4BD4   4FF9   4MCM   4MCN   4NIN   4NIO   4NIP   4OH2   4SOD   4XCR   5DLI  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Protein-protein Interaction (7)

Gene RIF (844)

27264826 The methylation status OF extracellular superoxide dismutase gene is associated with the size of cerebral infarction, degree of cerebral arteriosclerosis and severity of neurological impairment.
27002158 Primary astrocytes isolated from mutant human superoxide dismutase 1-overexpressing mice as well as human post-mortem ALS spinal cord-derived astrocytes induce motor neuron death in co-culture. Increasing total and mitochondrial NAD(+) content in ALS astrocytes increases oxidative stress resistance and reverts their toxicity toward co-cultured motor neurons.
26984187 In transgenic mice expressing SOD1, lower POMC levels were observed in hypothalamus in an ALS model.
26947057 Data show that transformation of voltage dependent anion channel VDAC1 (Deltapor1) yeast with human Cu/Zn superoxide dismutase (SOD1) completely restores the cell growth deficit.
26810478 the results of the study suggest that an inherent low autophagy capacity might cause the selective vulnerability of the motor system to mutant SOD1s.
26761025 H5N1 infection in lung epithelial cells decreased SOD1 expression at mRNA and protein levels.
26756888 The results of this study provided the first in vivo evidence that highly specific inhibition of calpains in neurons by Calpastatin delays motor axon death and substantially extends lifespan in the hSOD1G93A ALS mouse
26719414 SOD1 mutants designed to promote trimerization increase cell death.
26710998 This study supports the view that rAAVrh10-miR-SOD1 merits further development for the treatment of SOD1-linked Amyotrophic lateral sclerosis in humans
26707483 we suggest that transduced Tat-SOD qualifies as an atheroprotective agent against oxidation-driven and inflammation-associated atherosclerosis
26643113 provides evidence for a novel interaction of alpha-synuclein and SOD1 that might be relevant for neurodegenerative diseases
26637092 The profile of expression of SOD1 and SOD2 in colorectal cancer cell lines SW480 and SW620 indicates differentiated response of tumor cells depending on access to oxygen.
26619836 Our work provides a mechanistic explanation for how expression of mutant SOD1 might contribute to altering motor neuron excitability in familial amyotrophic lateral sclerosis
26619801 Although our data suggest that SOD1 is transcriptionally regulated in response to OS, Nrf2 does not appear to associate with SOD1 promoter in this cellular model of neurodegeneration.
26605911 Study identifies a common mechanism of transport into neurites of proteins linked to the pathology of Alzheimer's disease (i.e. sAPP) and ALS (i.e. FUS, TDP-43 and SOD1)
26600047 Mutant SOD1 Increases APP Expression and Phosphorylation in Cellular and Animal Models of ALS
26599430 report a direct interaction between SOD1 and CXCR4. We showed that SOD1 interacts directly with the first intracellular loop (ICL1) of CXCR4 and that the CXCL12/CXCR4-mediated regulation of AKT activation, apoptosis and cell migration in prostate cancer (PCa) cells is differentially modulated under normal versus hypoxic conditions when SOD1 is present
26589182 Data show that the redox state of cytochrome c oxidase assembly protein 17 (Cox17), mitochondrial membrane transport protein Mia40 and superoxide dismutase 1 (SOD1) in the cytoplasm were directly observed with in-cell NMR spectroscopy.
26477504 An increase in both SOD1 and GPx1 activity is involved in the protective effect of sulodexide on ischemic endothelial cells.
26362407 Report shows that all mutations studied, even ones distant from the dimer interface, decrease interface stability and increase the population of monomeric SOD1 suggesting that substantial structural perturbations accompany dimer dissociation.
26298469 Results demonstrate that ALS-mutant forms of TDP-43, FUS, and SOD1 all perturb protein transport in the early secretory pathway between ER and Golgi compartments, and imply that restoring Rab1-mediated ER-Golgi transport is a novel ALS therapeutic target
26293199 RNA binding proteins TDP-43 and FUS do not consistently fit the currently characterised inclusion models suggesting that cells have a larger repertoire for generating inclusions than currently thought.
26244336 The study provided evidence that there is a time-point dependent activation of autophagy and the ubiquitin-proteasome degradative system in the skeletal muscle from transgenic mice expressing the G93A mutant human SOD1.
26241492 the results demonstrate that SOD1 regulates cell death and differentiation in myeloid leukemia cells. ATN-224 may be beneficial for myeloid leukemia therapy.
26125826 SOD, CAT, and GSH-PX content in the aqueous fluid and lenses decreased significantly with increasing lenticular nucleus hardness grading
26099300 These results show that apoSOD1(2SH) has a rugged free energy landscape that codes for distinct kinetic pathways leading to either maturation or non-native association.
26084641 Studied the pI distribution and metallation status of fALS SOD1 mutants vs. human wild-typeSOD1.
26075819 applied a stable isotope-labeling technique in combination with mass spectrometric detection and determined the in vivo kinetics of superoxide dismutase 1 (SOD1), mutation of which causes amyotrophic lateral sclerosis
25998063 An essential future path is examination of cross-category pathophysiological interrelationships and their co-correspondence to homeostatic regulation and disease progression in ALS.
25947891 Infertile women with moderate/severe endometriosis showed increased expression of the SOD1 in cumulus cells.
25908445 in human ovarian, esophageal, and pancreatic cancer tissues, the expression of SOD1 was significantly correlated with that of AUF-1, further supporting the importance of AUF-1 in regulating SOD1 gene expression
25853911 Mutated human SOD1(G93A) affects the expression and localization of claudin-5 leading to impaired integrity and breakdown of the blood-spinal cord barrier.
25825208 Data indicate that SOD promotes the invasive and migratory activity of pancreatic cancer.
25818327 Study found that the SOD1 35A/C genotype distribution and allele frequencies did not differ between migraineurs (with or without aura) and healthy subjects
25801590 Depletion of superoxide dismutases promotes muscular and neuronal ROS accumulation which may have a significant effect on age-dependent impairment of the Drosophila adults.
25798606 Exhaustion of motor neurons due to protein turnover is consistent with the data:SOD1 pathogenicity, lack of identification of a toxic mode, SOD1 mRNA levels in sporadic Amyotrophic Lateral Sclerosis (ALS), genetic risk factors affecting RNA metabolism.
25792239 The reduction of full-length TDP-43 level in mutant SOD1 cells indicates that at least some SOD1 mutations alter TDP-43 metabolism.
25789959 association of serum level with severity of alcoholic fatty liver disease not significant
25573477 We found that the SOD1 rs10432782 and rs2070424 polymorphisms were not associated with an increased risk of pseudoexfoliation syndrome.
25524953 This study suggest that increased SOD1 expression can lead to tau hyperphosphorylation, which might serve as an important contributing factor to the etiology of Down syndrome and SOD1-related ALS disease.
25496420 The I113T Cu/Zn SOD variant is particularly destabilized locally at the ion binding sites of loop 4, the zinc binding loop, which results in frequent exposure of the aggregation prone outer beta-strands I and VI of the beta-barrel.
25485927 Our data validates CuZnSOD as a novel therapeutic target in MM. We propose DSF as an adjuvant to BTZ in Multiple myeloma that is expected to overcome intrinsic and acquired BTZ resistance as well as augment BTZ cytotoxicity
25463043 Here we undertake a combined experimental and computational study aimed at establishing the molecular details underlying the regulatory effects of Ca(2+) over SOD1 aggregation potential.
25440013 This study demonistrated that rs2070424 polymorphism of the SOD1 gene is a risk factor for Alzheimer disease in Polish population.
25434301 Plasma Zn correlated positively with plasma leptin (r=0.746, P<0.01), Cu-Zn SOD (r=0.827, P<0.01), and negatively with percent fat mass.
25433341 analysis of the unusual disulfide bond in copper-zinc superoxide dismutase
25429517 Most mutants of SOD1 are unable to bind zinc, and this species may be a common precursor of potentially toxic oligomeric species, that are associated with familial ALS.
25377090 Report drastic change in the kinetics of the exocytotic fusion pore in chromaffin cells from the mSOD1 mouse model of amyotrophic lateral sclerosis.
25316790 Distinguishing attributes of amyotrophic lateral sclerosis mutant SOD proteins that correlate with clinical severity, were identified.
25306968 Data indicate that an amyotrophic lateral sclerosis (ALS)-causing superoxide dismutase 1 (SOD1) mutant inserts into membranes by forming a helical conformation.
25305079 WT-hSOD1 may indirectly augment the toxicity of mutant protein by competing for protective factors, but disease onset seems to be most accelerated when WT-hSOD1 interacts with mutant SOD1 and becomes misfolded.
25283363 evaluation of 3 polymorphisms - SOD1 + 35A/C, SOD2 + 47C/T, and GPx + 599C/T in type 2 diabetes mellitus (T2DM)cases and healthy controls from North India; SOD1 + 35A/C variant was monomorphic
25237191 Oxidation products of the hSOD1-Trp(32) residue, particularly the covalent dimer, trigger the non-amyloid aggregation of hSOD1.
25220364 Data suggest that a mutation in SOD1 found in patients with amyotrophic lateral sclerosis (A4V) alters polyanion binding and protein conformation/solubility/stability; these changes appear sufficient to accelerate pH-dependent SOD1 aggregation.
25175826 G93A SOD1 gene mutation is associated with amyotrophic lateral sclerosis.
25167838 The genetic supplementation of SIRT1 can ameliorate a mutant SOD1-linked amyotrophic lateral sclerosis mouse model partly through the activation of the HSF1/HSP70i chaperone system.
25164820 A misfolded region in SOD1 has been identified that is exposed in amyotrophic lateral sclerosis patients causing toxicity.
25149881 results demonstrated that SOD1 50-bp Del/Del and Ins/Del genotypes, as well as Del, allele, were associated with an increased risk of cardiovascular disease
25096579 Disease-causing mutations G93A and A4V show greatly altered reactivity patterns, which may contribute to the progression of familial ALS.
25093813 The results herein reported clearly document that at the neuromuscular junction of SOD1(G93A) mice there is an exacerbation of A2A receptor-mediated excitatory effects at the pre-symptomatic phase.
25054289 The over-expression of mitochondria-targeted catalase improved mitochondrial antioxidant defenses and mitochondrial function in mutant SOD1 G93A astrocyte cultures.
24971881 Sumoylation of ALS-linked SOD1 mutant protein by SUMO3 increased stability of the proteins and accelerated intracellular aggregate formation.
24962940 SOD1 level is higher in patients with breast cancer. It can be a useful marker in breast cancer diagnosis and treatment.
24946209 These data indicate that IAV-induced SOD1 repression, which may cause impaired redox balance in host cells, can be attributed, at least in part, to enhance viral replication.
24936435 High-molecular weight Sod1 is also oxidized at His120, a copper ligand, which will promote loss of this catalytic metal cofactor essential for SOD activity.
24918640 magnetic resonance imaging (MRI), neurophysiologic analyses, and histologic analyses were used to monitor the extent of peripheral nervous system damage in the SOD-1 amyotrophic lateral sclerosis rat model
24838187 Its mutation results in a predominantly lower motor neuron disease.
24821155 Report frequency of SOD1 SNPs in diabetic nephropathy.
24732311 Decreased levels of the MnSOD protein in PMNLs from patients with diabetic microvascular complications compared with those without complications indicates that patients with microvascular complications may have impaired antioxidant response.
24704493 The conditional expression of NF-L in the SOD1 iPSC-derived MNs corrected the NF subunit proportion, mitigating NF aggregation and neurite degeneration.
24704492 The mutant SOD1 protein induced a transcriptional signature indicative of increased oxidative stress, reduced mitochondrial function, altered subcellular transport, and activation of the ER stress and unfolded protein response pathways.
24692554 Results indicate that copper/zinc superoxide dismutase 1 (SOD1) mutations lead to an impairment in SOD1 dimerization and, subsequently, affect protein aggregation.
24634124 Study supports the notion that SOD and GSH-Px polymorphisms are involved in Celiac disease development, even though findings were not statistically significant.
24611504 The V31A mutation is thus likely to be associated with atypical ALS affecting multiple systems.
24591457 Genetic analysis demonstrated a heterozygous D90A-SOD1 mutation in a FOSMN syndrome patient.
24579824 Used the transgenic amyotrophic lateral sclerosis mouse model carrying the human SOD1G93A mutant gene to study accumulation of hSOD1G93A in the facial and trigeminal nuclei.
24577199 The SOD1-PCBP1 interaction accounts for nuclear SOD1 accumulation and that species-specific targets are key to Amyotrophic lateral sclerosis pathology in large mammals and in humans.
24567322 DJ-1 has a role in SOD1 activation and in neurodegenerative etiopathogenesis
24550511 Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms.
24547927 In our Keratoconus cohort, no pathogenic SOD1 mutation(s) was identified.
24501372 Selective inhibition of exocytosis in SOD1G93A astrocytes prevents astrocyte-mediated toxicity in motor neurons and delays onset of amyotrophic lateral sclerosis.
24496176 The superoxide dismutase (SOD1)(G93A) transgenic mouse model of amyotrophic lateral sclerosis is used to study presymptomatic pathology of the disease applying multimodal MRI.
24493373 The rs2814707 in sod1 are unlikely to be common cause of SALS in Chinese population.
24488615 Changes in motor unit properties of SOD1 rats have progressive and multidirectional character and speed depending on the motor unit type.
24480751 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
24472010 Mutations in the human SOD1 have been computed using five methods and compared to known experimental data, correlation between experimental literature data of SOD1 dimers and monomers was investigated
24450587 the toxicity of mutant SOD1 aggregates expressed in cultured human cells is determined by the state and activity of the proteasome.
24448804 the SOD1 inhibitor LCS-1 leads to a drastic fragmentation and swelling of the matrix, suggesting that in the absence of SOD2, SOD1 is required to maintain the integrity of the organelle.
24442855 Gene expression changes of SOD1(G93A) in skeletal muscle of transgenic ALS mice provide evidence for early changes that precede motor neuron death.
24439480 SOD1 mutation causes a reduction in mitochondrial respiration and an increase in glycolytic flux. This causes a reduction in adenosine triphosphate produced by oxidative phosphorylation and an increase in adenosine triphosphate produced by glycolysis.
24390572 Brainstem shares gliosis, oxidative stress and autophagic changes as in the spinal cord in an animal model of ALS.
24369116 H43R mutant exhibits greater mobility at Zn-binding and electrostatic loops. Dimer interface interaction in H43R mutant is weakened compared to that of Wild Type and W32F mutant.
24363822 Oxidative stress inage-related macular degeneration (AMD) patients may mount compensatory response resulting in increased levels of SOD1 in AMD patients.
24359187 findings evidentiate that the G93A mutation of SOD1 profoundly altered the adaptive metabolic response to hypoxia and this could increase the cell susceptibility to this stress
24344300 SOD1 segments involved in fibril formation have a role in improper protein maturation and incompletely folded states, demonstrating a common pathway for familial and sporadic ALS
24325798 It is one of the most common ALS related genes.
24320678 Data show that molecular dynamics simulation of Cu-Zn superoxide dismutase1 (Cu-Zn SOD1) indicate the structural consequences in the mutated structures.
24312616 structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis
24292713 SOD1 inhibition elevates hydrogen peroxide levels to induce cell death in lung cancer cells including those harboring KRAS mutations.
24269091 [review] Abnormalities in Cu,Zn superoxide dismutase redox states, folding and metallation all contribute to mitochondrial deficiencies observed among transgenic mice expressing various Cu,Zn superoxide dismutase mutations.
24256636 Our results uncover the potential importance of changes in protein surface hydrophobicity of SOD1 in amyotrophic lateral sclerosis
24253732 Glutathionylation potentiates benign superoxide dismutase 1 variants to the toxic forms associated with amyotrophic lateral sclerosis.
24234043 A reciprocal influence of CSTB and SOD1 at the gene expression level and for a direct interaction of the two proteins, is reported.
24184207 Antigen-dependent activation of human T lymphocytes significantly increased extracellular SOD-1 levels in lymphocyte cultures.
24155874 Wild type-SOD1 species with different degrees of solubility could be involved in the pathogenesis of sporadic amyotrophic lateral sclerosis.
24155217 We analyzed genes of the superoxide dismutase family (SOD1, SOD2, and SOD3) that are part of a major antioxidative stress system in human in order to detect the genetic variants contributing to the development of ASD.
24146173 Results suggest that there is no considerable influence of sequence variation in SOD1 on human longevity in Germans.
24143259 Disulfide scrambling appears to be an important event for misfolding and aggregation of SOD1
24140062 These results reveal a novel post-translational regulation of SOD1 by means of succinylation and SIRT5-dependent desuccinylation, which is important for the growth of lung tumor cells.
24134191 Several cellular events in amyotrophic lateral sclerosis link a mechanism occurring early in SOD1 expressing cells.
24126158 It exerts toxic effect on motor neurons in amyotrophic lateral sclerosis (ALS).
24099280 We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus (KC). Our results suggest a possible causative role of SOD1 in the pathogenesis of KC.
24094577 Its missense mutation might contribute to a pathogenesis of familial amyotrophic lateral sclerosis.
24091828 Aggregation of SOD1 in amyotrophic lateral sclerosis is prevented by protein disulfide isomerase expression.
24076220 SOD1 has a function as a molecular switch that activates the endoplasmic reticulum stress response, which plays an important role in cellular homeostasis under zinc-deficient conditions.
24065725 Consistent phenotypic differences in speed of disease progression and life-span are not explained by differences in human SOD1 transgene copy number or the burden of mutant SOD1 protein within the nervous system.
24040091 Data indicate that human SOD1(G93A) transgenic mice exhibited a significant increase in the mean amplitude of endplate potentials (EPPs).
24038157 Two independent single nucleotide polymorphisms in SOD1 were inversely associated with prostate cancer recurrence in additive models (rs17884057 hazard ratio [HR] = 0.49, 95%CI: 0.25-0.96; rs9967983 HR = 0.62, 95% CI: 0.40-0.95).
24032979 the D101N and D101G variants, which are both associated with relatively rapidly progressing disease, exhibit clearly distinctive features including different aggregation kinetics.
24026444 The calculations show that D124 is kept attached to the metal site of SOD1 in a kinetic trap. The exclusion of solvent molecules by the electrostatic loop of the protein is found to create the binding of D124 to the metal site.
24024135 Results from peptide mapping and mass spectrometry ssuggest that the inactivation of extracellular-SOD by peroxidase activity plays a role in regulating SOD activity in vivo.
24023695 HSJ1a acts on mutant SOD1 through a combination of chaperone, co-chaperone and pro-ubiquitylation activity.
24002644 RAD54B-deficient cells are selectively killed relative to controls via siRNA-based silencing of SOD1
23969235 ELAVs are involved in the regulation of SOD1 gene expression at post-transcriptional level and these proteins are more activated in ALS pathology
23954173 Its mutation causes s slowly progressive form of amyotrophic lateral sclerosis.
23927036 study characterizes post-translational modifications of SOD1 in situ, including peroxide- and cysteine-related modifications, and provide in vitro evidence that cysteinylation protects SOD1 from oxidative damage
23919400 study demonstrates the structure of cysteinylated SOD1 and shows that modification may prevent the negative effects of oxidation on SOD1 and thereby may function in a regulatory manner
23911407 Data indicate that transgenic mice over-expressing human SOD1 or catalase were protected from loss of plasma membrane integrity (LPMI) at early but not late periods of reperfusion.
23898858 K3E was the most frequent SOD1 mutation among Polish amyotrophic lateral sclerosis patients.
23889606 A novel point mutation in SOD1 is identified in a female Chinese patient with amyotrophic lateral sclerosis.
23875973 Report correlations between neuronal SOD1 and brain damage in alcoholics.
23861388 Ca(2+) diverts SOD1 aggregation from fibrils toward amorphous aggregates.
23853506 structural instability of the mutant codon 149 protein may underlie some toxic effects significantly involved in FALS pathogenesis.
23840839 This study shows that expression of human G93A and H48Q SOD1 mutations renders neuronal cells more susceptible to oxidative stress in terms of viability and significant differences in mitochondrial bioenergetics.
23837654 Binding of Cu(2+) induces the local refolding of denatured apo-H43R SOD1 to create toxic catalytic centers that convert the enzyme from antioxidant to pro-oxidant.
23831581 Cu,Zn-superoxide dismutase (SOD1) fibrils are transduced into cells in vitro and function as seeds to trigger the aggregation of endogenously expressed SOD1
23828685 The study results suggest that total antioxidant status and SOD monitoring could be valuable during the treatment of colorectal cancer.
23795822 SOD1 mutations influence the form and function of copper zinc SOD and cell signaling during the onset of amyotrophic lateral sclerosis. [Review]
23792044 Study identified a novel SNP variant in the 3'-UTR of SOD1 associated with myelomeningocele. The variant is predicted to alter microribonucleic acid (miRNA) binding.
23784844 The study compares the process of thermal unfolding investigated here to that of the amyotrophic lateral sclerosis - associated A4V mutation-induced unfolding at physiological temperature and find that the pathways are very similar.
23781296 Serum samples were obtained to detect the antioxidative enzymes of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase in Sixty patients with age-related cataract.
23781106 Human wild-type SOD1 and SOD1-linked familial amyotrophic lateral sclerosis mutants have a common intrinsic propensity to fibrillate through the N-terminus; single amino acid substitutions can lead to abnormal changes in the helical twist pattern.
23765103 extracellular misfolded wildtype or mutant SOD1 induce dysfunction to ER-Golgi compartments characteristic of ALS in neuronal cells
23761047 This review reveals significant changes in mitochondrial aerobic metabolism function in mitochondrial SOD1 and cytochrome c expressions produced in the platelets of multiple sclerosis patients.
23760509 Data indicate that cysteine residue 6 was the primary site of palmitoylation of superoxide dismutase 1 (SOD1).
23744890 This report illustrates a varied phenotypic presentation from SOD1-associated familial amylotrophic lateral sclerosis and illustrates whole exome sequencing
23720777 Data indicate that the antioxidant enzyme, Cu,Zn-SOD, increases mitochondrial H2O2 levels, which is linked to pulmonary fibrosis.
23665075 characterized the expression of GLT-1a and GLT-1b mRNA and the glutamate uptake activity in the fronto-temporal cortex and the lumbar spinal cord of transgenic rats expressing hSOD1(G93A) at various stages of the disease
23638916 If oxidative stress is an important mechanism in POAG-related retinal ganglion cell death, genetic variations in SOD1, SOD2 and SOD3 are not major contributors in the pathogenesis.
23612299 The monomeric copper-apo, zinc-holo protein of SOD1 is structurally perturbed and the apo-protein aggregates without reattainment of the monomer-dimer equilibrium.
23597337 That hSOD1 overexpression improves sensorimotor coordination in young organisms may suggest possible therapeutic strategies for early-onset ALS in humans.
23592792 astrocyte-derived exosomes efficiently transfer mutant SOD1 to spinal neurons and induce selective motor neuron death
23583391 ATPase-deficient Hsp104 mutants did not restore mobility, suggesting that, rather than preventing aggregation, Hsp104 disaggregates mutant SOD1 after it has aggregated
23578819 The results of thi study shows for the first time that the functional consequence of G93A hSOD1 overexpression in intact motor neurons is indeed a disturbance of the ER mitochondria calcium cycle
23496883 The A4V mutation as well as the absence of GSH, reduced hSod1 activity.
23489186 In conclusion, increased catecholamine production in PHEO is accompanied by decreased levels of vitamin C and increased levels of MDA which may indicate the activation of oxidative stress in PHEO.
23486940 This study demonistrated that in mouse in mouse models of sod1 mutation amyotrophic lateral sclerosis Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival
23455544 at atomic resolution, obeservation of zinc binding, homodimer formation and copper uptake, and that copper chaperone for SOD1 oxidizes the SOD1 intrasubunit disulfide bond through both copper-dependent and copper-independent mechanisms
23431167 molecular determinants for the dynamic motions within the beta-barrel of superoxide dismutase 1 (SOD1), which previously were implicated in allosteric regulation of protein maturation and also pathological misfolding
23431152 thermo-mechanical properties of both ALS-associated and rationally designed SOD1 variants
23418589 Data indicate there was no detrimental effect associated with the lack of Nrf2 in two different mutant hSOD1 animal models of amyotrophic lateral sclerosis (ALS).
23414135 Familial amyotrophic lateral sclerosis with SOD1 mutations appears to exhibit genetic anticipation.
23339308 A review on the mechanism of SOD1 aggregation in the onset and progression of amyotrophic lateral sclerosis.
23332757 Results suggest that SOD1 acts as a metabolic focal point for integrating O2, nutrients (glucose), and reactive oxygen (superoxide) to direct energy metabolism.
23303748 We report nano-electrospray ionization-ion mobility mass spectrometry (nano-ESI-IM-MS) characterization of bovine superoxide dismutase (SOD-1) and human SOD-1 purified from erythrocytes.
23298163 Blood gene expression profile overlapped with spinal cord profile, allowing differentiation of SOD1-G93A transgenic mice from wild-type.
23297859 Hormone-mediated modulation of CuZnSOD is related to subtle changes in protein conformation, possibly related to Trp and Phe residues.
23291526 Mutations in SOD1 is associated with increased tendency to lose either Cu or Zn and to monomerize-processes known to be critical in the progression of amyotrophic lateral sclerosis.
23289810 If genetic variation in genes encoding SOD-1, SOD-2 and SOD-3 contributes to cataract formation, there is no major contribution of the SNPs analyzed in the present study.
23286750 The proportion of SOD1-positive familial amyotrophic lateral sclerosis cases in Alberta (Canada) is higher than reported elsewhere.
23264618 Disulfide scrambling describes the oligomer formation of superoxide dismutase (SOD1) proteins in the familial form of amyotrophic lateral sclerosis
23196439 In familial ALS kinders with mutations in the SOD1 gene, the age of onset of weakness varies greatly but the duration of illness appears to be characteristic to each mutation
23182243 A novel pathogenic SOD1 mutation is identified in an amyotrophic lateral sclerosis patient with rapid disease progression.
23147550 SOD1 measured in cerebrospinal fluid following SOD1-lowering therapy is an excellent marker of SOD1 levels over time.
23147503 The mRNA and protein expressions of PGC-1alpha and PGC-1alpha-regulated factors in the spinal cord and muscle tissues of SOD1 ALS mice and in ALS patients.
23147108 Collectively, the results of this study demonstrated that SOD1 could activate a transductional pathway through the involvement of M1 muscarinic receptor.
23118898 this study is an extension of previous work demonstrating that cysteine residues in mutant SOD1 play a role in modulating aggregation and that intermolecular disulfide bonds are not required to produce large intracellular inclusion-like structures.
23114721 overexpression of SOD1 in the paraventricular nucleus attenuates sympathetic activity, hypertension, and improves myocardial and vascular remodeling in spontaneously hypertensive rats.
23076707 Misfolded human SOD1 variants in spinal cords of transgenic mice were mostly monomers w/o the C57-C146 disulfide bond with large hydrodynamic volume & disordered structure. The rest were non-covalently associated in 130- & 250-kDa complexes.
23076148 native S1006 seeds SOD1 aggregation, shortening its nucleation process. This suggests a cross-talk between these two proteins involved in ALS.
23030347 there were no statistically significant differences in genotype distribution and allele frequencies of SOD1 G7958A between gastric cancer patients and controls
23026746 findings show that wild-type human superoxide dismutase-1 has the ability to cause ALS in mice, and they support the hypothesis of a more general involvement of the protein in the disease in humans
22999954 The results also imply a crucial role for water in governing the productive folding reaction and enhancing the propensity for the aggregation of SOD1.
22987392 In a SOD1G93A transgenic rat model, the following changes in astrocytes occurred in upper brainstem and cortex: an increase in AQP4; a decrease in Kir4.1; and a reduction of Kir currents measured in cultured cortical astrocytes.
22984565 analysis of the copper-bound carbonate intermediate in the peroxidase and dismutase activities of superoxide dismutase
22972774 Four SNPs in the SOD1 gene (rs 202446, rs202447, rs4816405, and rs2070424) and one SNP in the SOD2 gene (s 5746105) appeared to be associated with myelomeningocele risk in our population.
22970972 Data show that T allele of catalase (CAT) and C allele of superoxide dismutase (SOD1) were significant risk factors for type 2 diabetes mellitus (T2DM).
22967507 The accumulation of SOD1G93A aggregates sequesters Hsp70, preventing the delivery of misfolded proteins to the proteasome.
22958044 Genetic polymorphisms of antioxidant enzymes in preterm infants.
22931816 The noise exposure level and cumulative noise exposure might influence the relationship between rs2070424, rs10432782 SNPs in SOD1 and noise-induced hearing loss.
22926189 Results implicate easily soluble, misfolded SOD1 as being toxic to the cell and support the hypothesis that reducing solubility of mutant SOD1 proteins through aggregation may occur as a self-protective response in the cell
22910911 PPARgamma displays increased responsiveness in cultured hSOD1(G93A) motor neurons, points to a role for this receptor in neutralizing deleterious lipoperoxidation derivatives within the motor cells.
22899264 Used capillary electrophoresis-electrospray mass spectrometry with an accurate mass and high-resolution time-of-flight mass spectrometer (CE-TOF-MS) for separation and characterization of standard bovine SOD-1 and human SOD-1 purified from erythrocytes.
22869735 analysis of human superoxide dismutase 1 (hSOD1) maturation through interaction with human copper chaperone for SOD1 (hCCS)
22867017 Vulnerability of CuZnSOD influenced by redox likely amplifies injury and inflammation during acute asthma.
22853691 A 5 exons mutation of SOD1 in all affected individuals (a group of adults from a small Chinese Han pedigree) with ALS was identified using SSCP. Routine exons mutation of SOD1 was not detected.
22804629 Some human SOD1s are heterodimers having two forms of loop VI.
22797053 The function of smooth muscle cells is impaired in SOD1-G93A satellite cells from the earliest stages of this amyotrophic lateral sclerosis tissue transgene, when no critical motor neuron loss has been described.
22768276 Diffusion coefficients of huntingtin (Htt) fragments and SOD1 mutants expressed in cells were measured using fluorescence correlation spectroscopy.
22761419 the sequestration of misfolded SOD1 into aggresomes, which is driven by ataxin-3, plays an important role in attenuating protein misfolding-induced cell toxicity.
22735487 During the early slowly progressing phase of disease in transgenic mice, the adult mSOD1 microglia display a neuroprotective M2 phenotype whereas in the rapidly progressing phase of disease, adult mSOD1 microglia adopt an M1 neurotoxic phenotype.
22670878 Our case study describes two siblings with familial ALS, confirmed by the identification of the L84F mutation in the SOD1 gene, and REM behavior disorder
22651090 the differences in the GSH/glutaredoxin 1 reaction rate with normal compared with amyotrophic lateral sclerosis mutant SOD1 may contribute to the greater pathogenicity of the amyotrophic lateral sclerosis mutant SOD1
22650006 the activity of copper zinc superoxide dismutase (CuZnSOD) in the erythrocytes of hypertensive diabetic patients with or without renal insufficiency
22647583 Neurogenic bladder, sensory impairment, and degeneration of the hypothalamus and thalamus might be specific features in patients with familial amyotrophic lateral sclerosis with L106V mutation in the SOD1 gene.
22613021 SOD1 may be involved in modulating axotomy responses in dorsal root ganglion (DRG)-spinal network.
22609817 In a G93A superoxide dismutase (SOD)-1 transgenic mouse model where green fluorescent protein is expressed in neurons, degeneration of white matter tracts is present from the ventral to dorsolateral funiculi.
22608880 a major role for SOD1 in the mechanisms of cardiovascular protection against oxidative stress in type 2 diabetic subjects
22595972 Wild-type human SOD1 is moderately stable, and was found here to be within the stability range of the amyotrophic lateral sclerosis -causing SOD1 variants.
22595939 A novel Cys146X mutation in the SOD1 gene has been identified in the Chinese pedigree with familial amyotrophic lateral sclerosis.
22590985 Data indicate that serum superoxide dismutase (SOD) level after radiation of 40 Gy/4 weeks seems to be a potential predictor for radiation pneumonitis (RP).
22589106 Characterization of zinc-binding sites from pI isoforms of SOD1 and A4V pathogenic mutant using coupled native IEF and extended X-ray absorption spectroscopy.
22580443 We detected reduced plasma levels of zinc and MMP-2, and enhanced plasma levels of SOD in patients with keratoconus compared with the healthy subjects.
22561328 Increased SOD1 levels positively correlate with memory decline in adults with Down syndrome.
22542539 FGF-2-deficient mutant SOD1 mice show a significant delay in disease onset and less impaired motor performance in comparison to mutant SOD1 mice with normal basic fibroblast growth factor (FGF)2 levels.
22542526 Hydrogen peroxide treatment causes oxidative damage to active-site histidine residues, leading to major structural changes and non-amyloid aggregation similar to that seen in amyotrophic lateral sclerosis.
22493728 Cytosolic mislocalization of FUS or TDP43 may trigger SOD1 misfolding in non-SOD1 amyotropic lateral sclerosis.
22492046 A subset of mutant SOD1 motoneurons shows exacerbated sensitivity to activation of the motoneuron-specific Fas/nitric oxide pathway.
22475618 Data presented provides a further knowledge to the spectrum of phenotypes associated with SOD1 mutations in a large Norwegian kindred with a condition that clinically had been classified as Charcot Marie Tooth type 2.
22471903 Mutations in SOD1, causative for a subset of familial ALS cases, are associated with the formation of non-normal SOD1 conformers; this review expands on evidence demonstating mitochondria as common intersectng point for misfolded SOD1 [review]
22448134 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
22438926 SOD1(G93A)- and SOD1(H46R)-mediated toxicity and their associated pathogenic pathways are not identical.
22431618 ability of C4F6 to differentiate pathologically affected tissue in mutant SOD1 ALS rodent models and humans, specifically motor neuron populations, suggests that this antibody may recognize a "toxic" form of the mutant SOD1 protein
22424128 This study demonistrted that blood pressure gradually decreased in transgenicSOD1-G93A mice but not in WT mice from age 10-11 weeks until the advanced stages of the disease.
22416121 This study conclusively demonstrates the existence of an iper-oxidized SOD1 with toxic properties in patient-derived cells.
22409359 A marked intrafamilial phenotypic variation associated with the SOD1 C111Y mutation.
22390177 Activated unfolded protein response in motor neurons which overexpress human pathogenic mutant SOD1(G93A) provides evidence that endoplasmic reticulum stress plays a major role in amyotrophic lateral sclerosis.
22357533 In a Chinese Han population, the SNP of rs2070424 in SOD1 may be associated with susceptibility to noise-induced hearing loss.
22343163 A novel exon 3 mutation (P66S) in the SOD1 gene is identified in a family.
22332887 We show that the combined effect of these mutations produces a protein that is unstable but does not aggregate on its own, is not toxic, and does not induce disease when co-expressed with high levels of wild-type SOD1
22320662 analysis of Cu(I) affinities of the domain 1 and 3 sites in the human metallochaperone for Cu,Zn-superoxide dismutase
22292847 findings support the hypothesis of a founder effect responsible for the D11Y SOD1 mutation in Italian amyotrophic patients; data confirm several ALS-linked genetic defects show regional distribution and suggest incomplete penetrance of D11Y SOD1 mutation may explain the apparent sporadic occurrence of ALS
22292843 Results identify novel variants in SOD1, ANG, TARDBP and FUS, and expand the FUS-associated clinicopathologic phenotype of amyotrophic lateral sclerosis.
22264771 amyotrophic lateral sclerosis patients with a SOD1 gene mutation appear as a distinct metabolic entity in the cerebrospinal fluid, in particular in patients with the D90A mutation
22249462 The results of this study suggested a new role for the nucleus expression SOD1 in amyotrophic lateral sclerosis pathobiology and a possible new mechanism for mutant hSOD1 cytotoxicity.
22219285 Together, these results suggest that impaired mitochondrial dynamics may contribute to the selective degeneration of motor neurons in SOD1-mutated familial amyotrophic lateral sclerosis.
22214312 All seven amyotrophic lateral sclerosis patients from a family harboured a mutation located in the fourth intron of the SOD1 gene.
22212531 In hemodialysis patients, oxidative stress is generated on the leukocyte membrane, and the level of Cu/Zn-superoxide dismutase mRNA in leukocytes can be a useful oxidative stress marker.
22210350 These results support the hypothesis of the formation of aggregation "building blocks" via apo-monomer local unfolding as the mechanism of SOD1 fibrillar aggregation.
22203790 Cigarette smoke damages human osteoblasts by accumulation of reactive oxygen species. Quercetin can diminish this damage by scavenging the radicals and by upregulating the expression of heme-oxygenase-1 and SOD-1.
22185396 identified a familial amyotrophic lateral sclerosis family in China with an atypical clinical phenotype; demonstrated a mutation in exon 2 of SOD1 and presence of an insertion mutation in exon 2 not reported previously; mutant SOD1 gene encodes a truncated protein of 35 amino acid residues; SOD1 exon 2 mutation is likely to be the etiological factor of ALS in this family
22171159 A significant association between keratoconus patients and VSX1 genetic alterations, is reported.
22117694 No direct link between D-serine and SOD1 is known to exist; however, it could be inferred that enhanced D-serine production and/or release from glial cells might result from the stress response of gial activation known to occur in these transgenic mice.
22116045 Our data suggest that SOD1(G127X) motor axons undergo a state of membrane depolarization; however, during rapid motoneuron loss disease-specific nerve excitability measures are confounded by excitability changes in degenerating.
22094223 Data suggest that mutant SOD1 can adopt multiple misfolded conformations with the potential that different structural variants mediate different aspects of familial ALS.
22089180 There was no significant relationship between the SOD2_Ala16Val and SOD1int1(G9A) polymorphisms and bone mineral density in postmenopausal women.
22088212 inhibition of synaptic release mechanism by association of misfolded SOD1 with synaptic molecules plays a role in the dysfunction of familial amyotrophic lateral sclerosis
22081209 SOD1 and mitochondria in ALS: a dangerous liaison
22072713 SOD1 (copper/zinc superoxide dismutase) deficiency drives amyloid beta protein oligomerization and memory loss in mouse model of Alzheimer disease.
22049684 Cys111Tyr mutation in SOD1 led to a relatively mild phenotype and Gly147Asp mutation displayed a rapidly amyotrophic lateral sclerosis progression.
22036626 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
22023190 Data show that autoantibodies against an aberrant form of SOD1 are associated with sporadic amyotrophic lateral sclerosis, and that levels of anti-SOD1 antibodies correlate with ALS disease duration.
22005552 A 50 base pair deletion polymorphism does not modulate SOD1 mRNA level or disease phenotype in an Italian population.
21986594 A significant negative correlation between carbonic anhydrase autoantibody titers and SOD activities in red blood cells of the rheumatoid arthritis group was established
21976959 Novel and already reported variants were identified in SPARC and SOD1, whose pathogenic significance has not been established in Italian patients with keratoconus.
21969586 Astrocytes carrying the superoxide dismutase 1 (SOD1G93A) mutation induce wild-type motor neuron degeneration in vivo.
21963083 SOD1 allelic variations were associated with the prevalence of diabetic nephropathy, with the incidence of microalbuminuria and with decreased glomeruloar filtration rate in type 1 diabetic subjects
21943126 Resting mutant SOD1-overexpressing microglia may have reduced capacity to function as sensors of disturbed tissue/cellular homeostasis and thus have reduced neuroprotective function.
21940617 The results of this study found of MRS changes in SOD1+ subjects prior to the onset of clinical symptoms provides support for these hypotheses as well as motivation for a longitudinal MRS study in the presymptomatic SOD1+ population.
21930926 data suggest that stratification of CaP patients for HER2/3 and PTEN status could identify patients with aggressive CaP who may respond favorably to MEK inhibition
21930207 These results provide compelling new evidence that a mutant SOD1 is capable of disrupting cellular homeostasis via an unregulated ion channel mechanism
21921984 The G/G genotype of the SOD1-251A/G polymorphism may be associated with an increased risk of cataract.
21908873 Data confirm that altered properties of astrocytes are likely to play a crucial role in the propagation of motoneuron injury in superoxide dismutase 1-related amyotrophic lateral sclerosis.
21896300 SOD activity is increased in the acute early phase of schizophrenia, but greater positive symptoms are associated with relatively normal SOD activity.
21887272 The initial maturation steps of human copper, zinc superoxide dismutase 1 are characterized.
21877919 study describes a large amyotrophic lateral sclerosis (ALS) Polish family carrying a G41S mutation in the SOD1, and characterized by an early onset of the disease and short survival time; data support the hypothesis that a SOD1 mutation is not the sole factor determining the clinical amyotrophic lateral sclerosis phenotype
21843597 Thsis study found that hSOD1 overexpression increases the proliferation of OPCs and accelerates their differentiation to mature OL in vitro.
21839474 D11Y SOD1 mutation is associated with a peculiar phenotype of Amiotrophic Lateral Sclerosis
21832997 SOD1 is a viable target for sporadic amyotrophic lateral sclerosis, as its knockdown significantly attenuates astrocyte-mediated toxicity toward motor neurons.
21825243 Optineurin is involved in the pathogenesis of sporadic amyotropic lateral sclerosis (ALS) and non-SOD1 familial ALS, thus supporting the hypothesis that these forms of ALS share a pathway that is distinct from that of SOD1-linked ALS.
21816178 Transgenic mice with the G37R mutation of human SOD1 exhibited earliest signs of dysfunction at 8 months in terms of a pathological hindpaw clasping reflex,anomalies in footprint patterns,weaker grip strength.
21800301 A significant decrease in facial motoneuron (FMN) survival is observed in SOD1 transgenic mice compared with wild-type, which suggests an increased susceptibility to axotomy.
21796667 DJ-1 regulates SOD1 expression through Erk1/2-Elk1 pathway in its protective response to oxidative insult.
21780215 The human mutant superoxide dismutase 1 turns over about 10-fold faster than a similarly expressed wild-type fusion protein in spinal cord of mice.
21760539 This study demonistrated that The SOD1 mutation in glia may not contribute to the pathogenesis of Spinal inhibitory interneuron and motor neuron degeneration.
21733494 This study demonistrated that SOD1(G93A) transgenic mice showed gait abnormalities.
21700728 mutations in ALS patients show diverse phenotype and extremely long survival
21700707 The cytotoxic function of apoSOD1 does not emerge from its folded ground state but from a high energy intermediate or even from the denatured ensemble.
21692800 The inability of SOD1 with an H80G mutation to take part in normal oxidation-reduction reactions has important ramifications for disease mechanisms and pathology in vivo.
21655264 Results suggest that 14-3-3 proteins may be associated with the formation of SOD1-containing inclusions, in FALS patients and the mutant SOD1-Tg mice.
21651514 A single mutation in SOD1 (Asp109Tyr) and three mutations in TARBDP (Ala382Thr, Gly295Ser, Gly294Val) have been found in five unrelated amyotrophic lateral sclerosis Italian patients.
21624464 mMlecular signaling, driven by expression of SOD1, affects regulation of apoptosis in motor neurons and thus may have implications for amyotrophic lateral sclerosis therapy, where prevention of motor neuronal cell death is one of the major aims.
21620832 In an experimental murine model of amyotrophic lateral sclerosis in SOD1 transgenic mice, motor neuron disease initiates from muscle damage and results from retrograde dying-back of the motor neurons.
21605634 Data suggest that APP/SOD1 overexpressing mice are less sensitive for neuropathic pain associated with neuroma.
21600285 Decreased life span in glutathione-deficient/SOD1(G93A) mice is associated with increased oxidative stress, aggravated mitochondrial pathology and increased association of transgenic SOD1 with the mitochondria.
21574856 T137A represents a new missense mutation of the SOD1 gene in amyotrophic lateral sclerosis (ALS) patients from an Italian family.
21554318 Mutant SOD1 forms aggregates and impairs the proteasome only in motoneuronal NSC34 cells and not in C2C12 muscle cells.
21550164 reduced enzyme activity in patients with bronchial asthma or allergic rhinitis
21549454 although the described case is included as a familiar form of amyotrophic lateral sclerosis, it cannot be attributed to the mutation of SOD1
21549128 greater propensity of the mutants to populate Cu-deficient states potentially implicates these species as a pathogenic form of SOD1 in SOD1-associated ALS and provides a novel target for therapeutic intervention
21515558 Data show that differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALS.
21506602 structural instability and the resultant Cu-dependent pro-oxidant activity of the apo form of mutant SOD1 may be one of the pathogenic mechanisms of ALS
21493711 results argue against the notion that chaperone depletion is involved in ALS pathogenesis in the transgenic models and in humans carrying SOD1 mutations.
21469165 Small heat shock protein 27 (HSP27) and superoxide dismutase [Cu-Zn] were down-regulated while cofilin-1 was up-regulated significantly in keratinocytes in response to the chemical challenge.
21421868 SOD1 deficiency causes retinal ganglion cell vulnerability, which may be involved in the underlying condition of normal tension glaucoma.
21413851 A heterozygous I113F mutation in a patient with amyotrophic lateral sclerosis is characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis.
21403029 can conclude that TARDBP or FUS amyotrophic lateral sclerosis (ALS) predisposing mutations do not affect the splicing of SOD1
21396374 The authors found that post-translational modification of SOD1, especially glutathionylation, promotes dimer dissociation.
21388680 The mechanism linking mutant G37R SOD1 and ALS involves mitochondrial respiratory chain deficiency resulting in ATP loss and impairment of mitochondrial and cytosolic Ca(2+) homeostasis.
21354101 CCS reduces, under non-oxidative conditions, yet facilitates in the presence of H(2)O(2), mitochondrial translocation of inactive SOD1 mutants.
21346313 Oxidative stress is considered to play a major role in motor neuron degeneration associated with iron homeostasis disturbance in a mutant SOD1 transgenic mouse model of amyotrophic lateral sclerosis.
21325350 Single-nucleotide polymorphism in superoxide dismutase is associated with progression of chronic kidney disease.
21287393 Misfolded SOD1 present in glial and motoneuron nuclei may generally be involved in amyotrophic lateral sclerosis pathogenesis.
21257910 reduced apo SOD1 does not play a dominant role in modulating disease.
21239495 presenilins are important for cellular copper and zinc turnover, influencing SOD1 activity, and having the potential to indirectly impact beta-amyloid aggregation through metal ion clearance.
21226712 Levels of misfolded SOD1 from cerebrospinal fluid (CSF) may be too low to cause direct cytotoxicity, hence misfolded SOD1 in CSF cannot be used as a biomarker for amyotrophic lateral sclerosis in patients with and without mutations in the enzyme.
21210247 Aanalysis demonstrates that the activity of superoxide dismutase enzyme is influenced by components of the metabolic syndrome, and the plasmatic glucose, body mass index, and waist circumference have a negative correlation with this enzyme.
21185345 Derlin-1 regulates the turnover of SOD1 by promoting the proteasomal and autophagosomal degradation of SOD1 protein, but not by decreasing mutant SOD1 mRNA levels.
21179281 No association was found between clinical outcome of acute paraquat intoxication and the genetic polymorphism of GPX1 (C593T) or the genetic polymorphisms or enzyme activity of superoxide dismutase (V16A) or catalase (C262T).
21153888 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
21151573 VGF is regulated by SOD1 and plays a critical role in motor neuron survival
21145892 Transgenic SOD1(G93A) mice showed an increase in astrogliosis in motor cortex and spinal cord during symptomatic stage of amyotrophic lateral sclerosis.
21140194 Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
21120952 Alterations in transcription and pre-mRNA splicing of candidate genes were confirmed experimentally in the cell line models as well as in brain and spinal cord of transgenic mice carrying the G93A-SOD1 mutation
21120636 Data report different clinical expression in seven members of a large family with amyotrophic lateral sclerosis (ALS) and the G93D mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene.
21102999 Data show that the delayed development of disease in SOD-1 (G93A)(PS) mice line may more closely mimic human pathophysiology, and studying drug effects in this model may yield added confidence for potential efficacy of ALS drug candidates.
21098299 Data report a strategy to chemically cross-link the SOD1 dimer using two adjacent cysteine residues on each respective monomer (Cys111).
21084099 findings in this family provide new information regarding the clinicopathological features of FALS with Gly72Ser mutation in the SOD1 gene.
21083503 Whole-body cryotherapy of multiple sclerosis patients resulted in the significant increase of total antioxidative status level in plasma but had no effects on activities of superoxide dismutase .
21078175 The G93A-SOD1 gene mutation alters the balance between pro-apoptotic and pro-survival molecular signals in the spinal cord tissue.
21073275 Data show that SOD1 C6S is a novel FALS associated mutation with reduced disease penetrance, long survival time and a phenotype very different from the other SOD1 mutations reported in codon C6.
21062492 Data show that the cytokine IL-17A is increased in the serum and in spinal cord CD8-positive T cells and mast cells of patients with amyotrophic lateral sclerosis, and that SOD-1 may play a role in this inflammation.
21056687 Neuronal nitric oxide synthase interacts with Sp1 through the PDZ domain inhibiting Sp1-mediated copper-zinc superoxide dismutase expression.
20953194 This study suggested that wild-type SOD1 can be pathogenic in SALS and identify an SOD1-dependent pathogenic mechanism common to familial amyotrophic lateral sclerosis and familial amyotrophic lateral sclerosis.
20933032 Mutant SOD1 transgene (but not wild-type) can affect the solubility/insolubility of its interacting proteins, including TAR DNA-binding protein 43 (TDP-43), through physical interactions.
20931825 In the group of patients with COPD, Val/Val genotype at position 9 of MnSOD signal peptide is associated with more severe depression, anxiety as a trait and anxiety as a state in comparison with patients who have Val/Ala and Ala/Ala genotypes.
20931343 we show reduced superoxide dismutase 1 protein amount in monocytes of chronic kidney disease, most pronounced in hemodialysis patients, accompanied by increased superoxide dismutase 1 gene expression
20877624 Observational study of gene-disease association. (HuGE Navigator)
20872977 Data show that SOD1-7958A/- and SOD2-16Ala/-genotypes increase the risk of gastric cancer in Chinese Han population, and that the SOD2-16Ala/-genotype is associated with malignant potential of GPL.
20871097 These data demonstrate that the product of the normal SOD1 allele in amyotrophic lateral sclerosis has potential to influence the toxicity of mutant SOD1.
20851292 Observational study of gene-disease association. (HuGE Navigator)
20838240 The data of this study indicated that reductions in KCC2 gene expression may contribute to selective motor deficits and disease progression in vulnerable motoneurons in a mouse model of ALS.
20837142 Findings suggest that lipid molecules induce SOD1 aggregation under physiological conditions and exert cytotoxicity, and might provide a possible mechanism for the pathogenesis of ALS.
20816908 SOD1 mutation increases vulnerability to endoplasmic reticulum (ER) dysfunction and to the appearance of aggregates and inclusion bodies containing Leu84Val SOD1.
20808835 aggregation of SOD1 in the presence of DNA
20801718 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20797535 results establish a direct link between misfolded mutant SOD1 and mitochondrial dysfunction in this form of inherited amyotrophic lateral sclerosis
20714737 GST-pi, SOD1, and SOD2 were co-localized with ChGA to the granules of most endocrine cellsof colorectal cancers
20709807 findings suggest that this novel intronic mutation is causing the disease and highlights importance of wide exon-flanking sequencing and transcript analysis combined with erythrocyte SOD1 activity analysis in comprehensive search for SOD1 mutations in ALS
20682985 An enhanced cisplatin sensitivity was observed in the A2780/CP cells treated with SOD1-specific siRNA, compared to non-siRNA-treated or scrambled-siRNA-treated control cells.
20682279 Aggregation modulating elements in mutant SOD1 are reported.
20664914 The absence of pathogenic mutations in SOD1 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder
20664914 Observational study of gene-disease association. (HuGE Navigator)
20648658 We revealed that activated microglia aggregated in the lumbar spinal cord of presymptomatic mutant SOD1(H46R) transgenic rats, an animal model of familial ALS.
20644736 Findings suggest that SOD1 may be involved in ALS pathogenesis in patients lacking mutations in the enzyme.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20616033 These findings identify microglial IL-1beta as a causative event of neuroinflammation and suggest IL-1 as a potential therapeutic target in amyotrophic lateral sclerosis.
20602615 Observational study of gene-disease association. (HuGE Navigator)
20598578 CuZn SOD activity in cerebrospinal fluid peaked 3 days after stroke, with values gradually decreasing after 7 days
20595380 COMMD1 as a novel protein regulating SOD1 activation and associate COMMD1 function with the production of free radicals.
20577002 Mutations in SOD1, ANG, VAPB, TARDBP and FUS genes have been identified in amyotrophic lateral sclerosis.
20577002 Observational study of gene-disease association. (HuGE Navigator)
20573565 Direct interaction between wild type and mutant forms of SOD1 is required for exacerbation of disease symptoms in mice by human SOD1 transgene.
20570967 HspB8 increases misfolded SOD1 clearance via autophagy.
20562451 The authors describe a familial amyotrophic lateral sclerosis pedigree with the SOD1 mutation in which all cases had respiratory involvement as a first symptom
20553085 High serum superoxide dismutase is associated with cancer.
20553075 High serum superoxide dismutase is associated with cancer.
20539010 An imbalance in extracellular superoxide and its antioxidant defense, extracellular superoxide dismutase, will promote pulmonary vascular remodeling and pulmonary hypertension.
20515426 The I112M mutation is associated with a uniform, fast-progressing phenotype & reduced penetrance. Mutation at codon 112 seems to confer a severe phenotype, probably related to altered protein functionality
20514411 CuZnSOD and MnSOD may suppress tumour growth through inhibiting metabolic stress-induced necrosis and HMGB1 release via inhibiting metabolic stress-induced mitochondrial ROS production.
20498711 Misfolding of superoxide dismutase 1 leads to the formation of amyloid fibrils associated with seeding activity, which can accelerate the formation of new fibrils in an autocatalytic cascade.
20485444 Observational study of gene-disease association. (HuGE Navigator)
20477822 Observational study of gene-disease association. (HuGE Navigator)
20472325 Observational study of gene-disease association. (HuGE Navigator)
20460594 The authors report four amyotrophic lateral sclerosis pedigrees from Finland, France, Germany and Sweden with SOD1 mutations in some but not all affected members
20460269 Mutant SOD1 induces mitochondrial morphological changes and compromises mitochondrial membrane integrity leading to release of Cytochrome C only in the presence of Bcl-2.
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20416077 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20410108 Mutant superoxide dismutase 1 models resulted in reduced membrane excitability and decreased membrane resistance in dendrites.
20406964 Observational study of gene-disease association. (HuGE Navigator)
20399857 This study indictes abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes.
20385105 Expression of CCAAT/enhancer binding protein reduces cisplatin-induced reactive oxygen species and apoptosis in NTUB1 carcinoma cells by inducing the expression of SOD1 via direct promoter transactivation.
20362497 Combined anatomical and functional modalities established normal integrity of corticomotoneurons in asymptomatic SOD-1 mutation carrier subjects.
20362497 Observational study of gene-disease association. (HuGE Navigator)
20346360 Observational study of gene-disease association. (HuGE Navigator)
20309572 A cooperative study of SOD1 mutations analyzes two groups of amyotrophic lateral sclerosis patients in Germany and identifies SOD1 mutations in 13% of these patients.
20303959 SOD1-G93A transgene and HO-1 are preferentially over-expressed in the lumbar spinal cord and GLT-1 are down-regulated.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20226522 In preeclampsia, labor upregulates SOD1 in fetal membranes as well as SOD2 and SOD3 in the whole placenta.
20223753 SOD1 in skeletal muscle has a causal role in Amyotrophic lateral sclerosis.
20221404 most, but not all, properties of SOD1 remain the same with a GFP tag
20202083 Insight into the effects of DJ-1 on mutant SOD1-mediated toxicity may provide a therapeutic advance for the treatment of motor neuron degeneration in ALS.
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20191117 Association of a mutant C-allele of rs2234694 polymorphism in SOD1 gene with advanced stage of diabetic nephropathy in patient with type 1 diabetes in Romania.
20191117 Observational study of gene-disease association. (HuGE Navigator)
20189984 the local impact of ALS-associated mutations on the SOD1 molecule can sometimes overrun their global effects on apo-state stability and net repulsive charge
20184893 the constant synthesis of ALS variants of SOD1 on ribosomes provides a pool of species in which the increased population of the unfolded state may favor aggregation over productive folding to the native dimeric state.
20184521 family highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I113T SOD1 mutation
20184519 two, apparently sporadic, Italian amyotrophic lateral sclerosis patients heterozygous for the D90A mutation
20177826 Whereas no significant variations are detectable in cortical and hippocampal areas, several SOD1 mutation-related changes are detected in the lumbar spinal cord of transgenic mice at the symptomatic stage, consistent with a condition of neuronal distress.
20176600 electrophysiological and genealogical data are presented from a large German pedigree with a mutation in the SOD1 gene
20151445 Using an antibody-based affinity chromatography procedure enzymatically active hSOD was extracted. Analysis of the hSOD extracted from the brain and liver of transgenic hSOD(G93A) rats provided evidence about heterodimers rSOD-hSOD(G93A).
20127819 These results provide further evidence of the profound correlations between spinal motor neurons of amyotrophic lateral sclerosis and parkinsonism-related proteins.
20111867 SOD1 misfolding is not a feature of sporadic amyotrophic lateral sclerosis
20108167 CU,Zn-SOD has a regulatory function for LPS-induced NF-kappaB activation leading to expression of iNOS and COX-2 in BV-2 cells.
20105444 enzyme activity is reduced in systemic lupus erythematosus patients
20097856 These studies suggest that conformational changes in Pseudomonas aeruginosa ExoU are facilitated by SOD1. Importantly, the level of phospholipase activity influences the biological outcome of ExoU intoxication.
20097285 results indicate G93A mutant SOD1 association with DNA may induce DNA damage & trigger apoptotic response by activating p53; results show toxic activity for mutant SOD1 in nucleus, indicating DNA damage may play important role in pathogenesis of ALS
20094844 Wild-type and A4V mutant human SOD1(a cause of amyotrophic lateral sclerosis) have been expressed in Schizosaccharomyces pombe.
20084016 Neuronal SOD1 conformers with P2X(4)- immunoreactivity may have pathogenetic relevance in the promotion of neuroinflammation.
20075587 Clinical hallmarks of an amyotrophic lateral sclerosis family indicate that glycine85serine mutation of SOD1 may cause a rapidly progressive form of pure lower motor neuron signs.
20056743 Observational study of gene-disease association. (HuGE Navigator)
20023586 The absence of pathogenic mutations in our large number of unrelated patients with KC (keratoconus) indicates that other genetic factors are involved in the development of this disorder.
20023586 Observational study of gene-disease association. (HuGE Navigator)
20011081 Extracellular (EC)-SOD was increased together with VEGF in the vitreous body from proliferative diabetic retinopathy patients, suggesting that EC-SOD may play a pivotal role in the pathogenesis of angiogenesis.
19965850 SOD1 mutations are rare in The Netherlands in familial and sporadic amyotrophic lateral sclerosis
19965850 Observational study of gene-disease association. (HuGE Navigator)
19953340 Data showed that early signs of neuropathology in the SOD1 mutant mice are accompanied by altered expression of genes involved in various biological processes including apoptosis, oxidative stress, ATP biosynthesis, myelination, and axonal transport.
19949914 These results showed that there is a decrease in superoxide dismutase 1 expression in tumor cells following exposure to cigarette smoke condensate.
19922450 Observational study of gene-disease association. (HuGE Navigator)
19922144 This report shows that the G93D mutation of SOD1 may cause a form of ALS with slow progression, long-lasting paucisymptomatic phase and both lower and upper motor neuron involvement.
19917371 Single nucleotide polymorphism is not asociated with development of delayed graft function or chronic rejection after kidney transplantation.
19917371 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19910193 Our data show for the first time that ferritin ubiquitination could be responsible for oxidative stress in muscles of rats bearing the G93A hmSOD1, consequently ferritin is not able to control the labile iron pool.
19902052 significant changes of SOD1 activity were observed in stages I and II of UICC in colorectal cancer.
19895330 Association between polymorphism in SOD1 and noise-induced hearing loss in Chinese workers.
19895330 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19878539 Copper/zinc superoxide dismutase may play an essential role in endothelial progenitor cell function in type 2 diabetes mellitus patients.
19845829 Mutant human SOD1 induces cell death in motor neurons and the activity of cytochrome c oxidase, but not the protein content of cytochrome c oxidase subunit II.
19828437 Compared with wild type, Amyotrophic lateral sclerosis-associated mutants have enhanced structural distortions in their excited states, and higher excited-state populations and lower kinetic barriers, implying increased susceptibility to oligomerization.
19818514 Differences in the number of CCL11- and CXCL11-expressing cells were observed between WT and mSOD1 mice after facial nerve axotomy.
19805550 human wild-type apo-SOD1 and variants have a partially unfolded beta-barrel at physiological temperature and unfold non-cooperatively
19805546 SOD1 sequesters Hu antigen R (HuR) and TIA-1-related protein (TIAR) and has a role in impaired post-transcriptional regulation of vascular endothelial growth factor
19800308 In metal-free SOD1 variants, the metal-binding loop elements are severely disordered and may share mechanisms of aggregation proposed previously for other pathogenic SOD1 proteins.
19787204 The present study is the first to evaluate the expression and activity of MnSOD, Cu/ZnSOD and catalase in human gastric samples.
19779023 Mutant SOD1 localized in the mitochondrial membranes is sufficient to determine mitochondrial abnormalities and neuronal toxicity.
19751676 characteristic structural changes to the protein that may allow the mutant form to improperly associate with other monomer subunits
19741096 Results indicate that MITOL plays a protective role against mitochondrial dysfunction caused by the mitochondrial accumulation of mSOD1 via the ubiquitin-proteasome pathway.
19726402 Observational study of gene-disease association. (HuGE Navigator)
19714405 Mutations in SOD1, the gene encoding a superoxide dismutase on chromosome 21, are found in 20% of familial amyotrophic lateral sclerosis patients [review]
19705749 Observational study of gene-disease association. (HuGE Navigator)
19703565 The findings argue against the idea of expression-reducing protective factors being present near the SOD1 D90A locus in recessive pedigrees. The similarity to wild-type SOD1 prompts speculations on the involvement of the latter in sporadic ALS.
19692168 Observational study of gene-disease association. (HuGE Navigator)
19685188 These studies indicate that both SOD1 dependent and independent pathways are integral in protection against ATP depletion-recovery mediated cytotoxicity and apoptosis.
19672969 extracellular mSOD1(G93A) is not directly toxic to motoneurons but requires microglial activation for toxicity, may suggest novel therapeutic targets in ALS.
19661182 Gp78 promotes SOD1 and ataxin-3 degradation in endoplasmic reticulum.
19660548 Coexpression of wild-type SOD1 contributes to familial amyotrophic lateral sclerosis by heterodimerization with mutant SOD1 forms.
19656261 These results indicate that the nature of mutant SOD1 toxicity might involve the dysregulation of the copper trafficking pathway, resulting in the disruption of intracellular copper homeostasis.
19655787 The area in the vicinity of the copper-zinc SOD1 metal binding site is selectively destabilized by amyotrophic lateral sclerosis-associated mutation Gly93Ala.
19654524 Based on dissimilarity of disease-associated alleles, the 2 families do not appear to share same haplotype and are not closely related. Strongly supports uniqueness of 7-base deletion in intron 2 of SOD1 gene to keratoconus phenotype.
19651777 Misfolding associated with metal deficiency may facilitate aberrant interactions of SOD1 with itself or with other cellular constituents and may thereby contribute to neuronal toxicity
19635794 A structural change in the electrostatic loop is common to all 13 amyotrophic lateral sclerosis-associated SOD1 variants.
19625176 Observational study of gene-disease association. (HuGE Navigator)
19596401 This study disproves the hypothesis that there is a tightly linked genetic protective factor specifically located close to the SOD1 gene in SOD1(D90A) mediated ALS.
19596401 Observational study of gene-disease association. (HuGE Navigator)
19576169 mutant SOD1 modulated tubulin polymerization, while wild-type SOD1 did not.
19560448 An increase in the activities of superoxide dismutase was observed in patients with active and silent celiac disease, while the activities of glutathione peroxidase and glutathione reductase and the glutathione content were significantly reduced.
19527700 Data show that decreased activities of GPX1, increased activities of GR and CuZnSOD in women with depressive disorder.
19524271 p.E22G SOD1 gene mutation is associated with long ALS survival; results emphasize the importance of genetic and clinical characterization of ALS1 families for understanding the genotype-phenotype relationships of each SOD1 gene mutantation
19515016 In transgenic SOD1 deficiency there is an increase in reactive oxygen species which accelerates red blood cell destruction.
19505917 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19497878 findings point to a critical role for the native Zn site in controlling SOD1 misfolding, and show that even subtle changes of the metal-loading sequence can render the wild-type protein the same structural properties as ALS-provoking mutations
19488901 G41S mutation is consistently associated with a uniform and dramatic, fast-progressing phenotype in founder effect of amyotrophic lateral sclerosis
19483195 All amyotrophic lateral sclerosis-associated mutations in SOD1 increase the aggregation propensity of the protein.
19482907 Variations in SOD emphasize the relevance of oxidative stress in the oocyte maturation process. These variations also suggest that SOD is a potential biomarker for ART success.
19478559 Intracellular amyloid beta directly interacts with SOD1, and that this interaction decreases the enzymatic activity of the enzyme.
19477268 mutations in the coding region are associated with amyotrophic lateral sclerosis; review
19459941 Cells with a low level of G93ASOD1 maintained higher GSH levels and GCL activity, showing that the exposure time and the level of the mutant protein modulate GSH synthesis
19442735 data suggests a role of SOD1 in non-cell autonomous degeneration and suggests that microglia/macrophages may be influenced by the SOD1's dismutase activity
19429011 results show that Bax and Sod1 mRNA levels are altered in peripheral blood mononuclear cells from both mild cognitive impairment and Alzheimer's disease patients
19423540 Nine SNPs distributed across eight genetic regions (ALOX5, IRAK3, ITGB2, NCF2, NFKB1, SELP, SOD1, and STAT1) were associated with risk of glioma with P value of <0.01.
19423540 Observational study of gene-disease association. (HuGE Navigator)
19423521 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19416874 mutant SOD1 has a role in the pathogenesis of familial ALS through disulfide oxidation and aggregation
19409565 Overexpression of catalase/SOD-1 in ApoE-deficient mice suppresses benzo(a)pyrene-accelerated atherosclerosis.
19399816 Enhanced oxidative stress and a decrease in the number of anti-oxidant enzymes may be associated with pre-eclampsia.
19399611 This overview reviews the current understanding of mutant SOD1-mediated motor neuron degeneration in amyotrophic lateral sclerosis, with focus on oxidative damage and mitochondrial dysfunction.
19379791 These studies suggest motor neuron degeneration in the G93A MUTANT SOD1 is associated with TDP-43 histopathology.
19369197 investigation of the solution state coupled with that of the crystal state can provide major insights into SOD1 pathway toward oligomerization in relation to familial amyotrophic lateral sclerosis
19363716 Screening for the SOD1 gene disclosed, at codon 140, a base substitution of adenine for thymine (GGT>CCA) in severe amyotrophic lateral sclerosis
19344917 Here, we report the cases of 3 patients with an H46R mutation in the SOD1 gene. Our patients showed progressive muscle weakness and wasting without upper motor signs or bulbar palsy.
19335999 The purified PEP-1-HSP27 fusion proteins can be transduced efficiently into neuronal cells and protect against cell death by enhancing mutant SOD1 activity.
19332692 Low penetrance of SOD1 mutation in a Canadian family of Filipino origin with amyltrophic lateral sclerosis enhances the naturally occurring alternative splicing of exon 2 of the SOD1 mRNA, leading to reduced transcription of the mutant allele.
19325915 some mutations related to ALS promote formation of amyloid-like aggregates by facilitating the loss of metals and/or by making the intramolecular disulfide bond more susceptible to reduction, allowing conversion of SOD1 to a form that aggregates
19299510 glutathionylation promotes SOD1 monomer formation supports a model in which increased oxidative stress promotes SOD1 aggregation.
19293633 hSOD1-G93A mutation causes both motor and sensory neuropathies, and as such the disease developed in the transgenic mice very closely resembles human ALS.
19268528 negatively regulates sperm capacitation
19266020 Mutations in the genetic background strongly enhanced the toxicity of huamn SOD1 mutants expressed in Caenorhabditis elegans.
19259395 SOD1 has a role in motor neuron degeneration linked to amyotrophic lateral sclerosis
19252762 Individuals with SOD1 gene mutations are less likely to have significant cognitive changes compared to non-SOD1 FALS patients. Cognitive abnormalities in ALS are heterogeneous and may reflect underlying genetic variations.
19252762 Observational study of gene-disease association. (HuGE Navigator)
19233858 Wild-type SOD1 overexpression accelerates disease onset in G85R SOD1 transgenic mouse.
19228676 In our Belgian cohort of FALS patients, SOD1 mutations were responsible for 35% of all cases while TARDBP was only identified in one family and therefore seemed to account for just a minority of FALS (3%) in this population.
19227972 Incomplete posttranslational modification of nascent SOD1 polypeptides via SOD1 copper chaperone (CCS) may be a characteristic shared by familial SOD1 mutants in amyotrophic lateral sclerosis.
19201909 These findings reveal a hitherto unknown IFN-beta/SOD1 axis in Leishmania infection
19196430 Thus, the strong RNA-binding affinity conferred by ALS-associated mutations of SOD1 may contribute to the post-transcriptional dysregulation of VEGF mRNA.
19191304 Animal modles with mutations in this gene develop pathology similar to amyotrophic lateral sclerosis[REVIEW]
19187267 Increased presynaptic territory on surviving motoneurons of transgenic SOD1 mice may represent a means of maintaining excitability, compensating for the loss of overall presynaptic input.
19176896 North American SOD1 alanine to valine mutation at codon 4 descended from two founders (Amerindian and European) 400-500 years ago.
19176896 Observational study of gene-disease association. (HuGE Navigator)
19174508 early consequence of the association of SOD1-G85R or SOD1-G93A with motoneuronal mitochondria is reduced capacity of the ETC to limit Ca(2+)-induced Psi(m) depolarization; this impairment contributes to disease progression in mutant SOD1 motor terminals.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19156168 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19139308 Patients with homozygous D90A SOD1 ALS showed less extensive pathologic white matter in motor and extramotor pathways compared with patients with sporadic ALS.
19139308 Observational study of gene-disease association. (HuGE Navigator)
19124506 Observational study of gene-disease association. (HuGE Navigator)
19119597 Expression of Cu/ZnSOD and PLUNC in in chronic sinusitis was higher than in normal tissue, and expression in nasal polyp tissue was lower than in normal tissue.
19109932 Data show that SOD1 is decreased in the CSF of temporal lobe epilepsy patients.
19091790 Role of CuZn superoxide dismutase on carotid body function in heart failure rabbits.
19091752 mSOD1 expression regulated TNF-alpha secretion at a post-transcriptional level and involved ROS-sensitive TNF-alpha-converting enzymes, e.g. ADAM10 and -17, which shed TNF-alpha from its membrane-anchored precursor.
19088126 KAP3 sequestration by misfolded SOD1 and the inhibition of ChAT transport play a role in the dysfunction of amyotrophic lateral sclerosis.
19077113 Together, these studies indicate that WT SOD1 (human or mouse), when expressed at levels equivalent to the mutant protein, modulates the aggregation of mutant SOD1.
19064571 Observational study of gene-disease association. (HuGE Navigator)
19060114 Mitochodrial disruptions are critical elements of SOD1(G93A)-mediated motor neuron degeneration in a transgenic mouse model of amyotrophic lateral sclerosis.
19041781 We show that NOX2 inhibitor, apocynin, can prevent the loss of motor neurons caused by SOD1-mutated astrocytes. These results provide an assay for drug screening using a human ALS in vitro astrocyte-based cell model.
19022905 Data show that a small amount of disulfide-reduced apo-superoxide dismutase 1 can rapidly initiate fibrillation under mild, physiologically accessible conditions.
19016906 These data suggest that SOD-1 mediates CCR5 activation by CCL5 and that pharmacological modulation of SOD-1 may be beneficial to CCR5-associated diseases.
19016244 Observational study of gene-disease association. (HuGE Navigator)
19011015 The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32.
19000626 We describe a patient with ALS and muscle mitochondrial oxidative defect associated with a novel SOD1 mutation. Revealed a heterozygous mutation in codon 22 substituting a highly conserved amino acid, from glutamine to arginine (Q22R).
18971355 Superoxide scavenging with adenovirus-mediated transfer of Cu/ZnSOD in mouse forebrain is associated with improved cardiac function and survival following myocardial infarction.
18951903 The results reveal the kinetic basis for the extremely high stability of wild-type holo SOD and the possible consequences of kinetic changes for disease.
18930811 Increased superoxide dismutase 1 expression is associated with multiple sclerosis lesions.
18840448 The approximately 100-fold increase in the rate of folding of SOD in the presence of micromolar concentrations of zinc demonstrates a significant role for a preorganized zinc-binding loop in the transition-state ensemble.
18826962 Ubiquitin-proteasome system impairment occurs in transgenic mice expressing mutant human Sod1 during amyotrophic lateral sclerosis progression.
18808763 sod mutation have been associated with amyotrophic lateral sclerosis and parkinson disease-{review}
18806750 Superoxide-dismutase was increased in benign hyperplasia of prostate and decreased in prostate cancer.
18790046 SOD1-overexpressing human glioma cells are radioresistant; its overexpression suppresses late ROS accumulation in irradiated cells, and the radioresistance is associated with enhanced G2 accumulation and decreased cyclin B1 mRNA and protein levels
18775420 SOD1 and SOD2 expressions demonstrate how sex and daytime, merit being controlled when human gene expression analyses are evaluated, particularly within the framework of clinical trials or cohort studies.
18761352 the rates of metal release during SOD1 unfolding in guanidine hydrochloride.
18727868 SOD coenzyme can effectively regulate Fas/FasL signal transduction and block apoptosis of alveolar macrophages from pneumoconiosis patients.
18715867 mitoKARS is the first described member of a group of mitochondrial proteins whose interaction with mutant SOD1 contributes to mitochondrial dysfunction in ALS
18712292 Upregulation of DJ-1 mRNA and protein levels were identified in the brains and spinal cords of SOD1(G93A) transgenic mice as compared to wild-type controls, evident from an early disease stage.
18703498 in mammalian cells, SOD1 mitochondrial localization is dictated by its folding state, which is modulated by several interconnected factors
18690666 DNAs tested are simultaneously condensed into a nanoparticle with a specific morphology during SOD1 aggregation, revealing that SOD1 aggregation and DNA condensation are two concurrent phenomena.
18683239 The astrocyte-specific gene expression profile in SOD1-mutant animals might contribute to the identification of possible candidates for cell type-specific therapies in ALS.
18676680 Observational study of gene-disease association. (HuGE Navigator)
18666828 Findings show that Cu/Zn-superoxide dismutase aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.
18652897 Amyotrophic lateral sclerosis-linked copper-zinc human superoxide dismutase mutant glycine93alanine-hSOD1 interacts with cytosolic malate dehydrogenase--a key enzyme in the malate-aspartate shuttle which is vital to neurons.
18651250 Data show major changes in the expression of mRNA in 60 genes in patients and mice with ALS, compared to controls.
18636124 Observational study of gene-disease association. (HuGE Navigator)
18624915 In conclusion, despite the protective action against acute motor neuron injury, Hsp27 alone is not sufficient to protect against the chronic motor neuron injury due to the presence of mutant SOD1.
18622615 Over-expressed SOD1 is associated with cisplatin-resistant ovarian cancer.
18617166 These results support the hypothesis that aberrant copper chemistry through a cysteine residue plays a critical role in mutant SOD1 toxicity and that TTM may be a promising therapy for familial ALS with SOD1 mutants.
18608106 Genetic analysis revealed three amyotrophic lateral sclerosis patients (1.8%) with mild phenotype carrying the homozygous D90A mutation of superoxide dismutase 1.
18608106 Observational study of gene-disease association. (HuGE Navigator)
18608091 SOD1 protein may modify the phenotype of SALS within selected populations
18608091 Observational study of gene-disease association. (HuGE Navigator)
18596033 Expression of wild type or disease-linked (A4V, G85R) mutants of human SOD1 selectively in motor neurons induced progressive climbing deficits.
18586551 study reports that nNOS overexpression induced a NO-dependent increase in the concentration of intracellular glutathione and a NO-independent down-regulation of SOD1 in terms of mRNA, protein and activity level
18582155 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18579581 BICD2-N transgene increased lifespan in 'low copy' SOD1-G93A ALS transgenic mice.
18574763 potential gender difference in levels of SOD1 in CSF of ALS(amyotrophic lateral sclerosis) patients
18559949 ablation of the amyloid beta (A4) precursor protein (App) or interleukin-1 receptor, type I (Il1r1), and transgenic overexpression of human superoxide dismutase 1 (SOD1) prolonged incubation times by 13, 16 and 19 %, respectively.
18552350 copper chaperone for SOD1 (CCS) facilitates maturation of SOD1 and that CCS overexpression ameliorates intracellular aggregation of mutant SOD1 in vivo.
18515363 The misfolded SOD1s directly perturb axonal transport or impair other functional properties of the dynein motor which may cause motor neuron death in lateral sclerosis.
18504130 Novel genetic variants were found in 30% brains and known variants in 91% brains from patients with SALS. Two novel variants found in SALS patients were located in the SOD1 promoter and intron 1.
18504130 Observational study of gene-disease association. (HuGE Navigator)
18485920 evidence of biochemical changes in the hindlimb muscle of young, presymptomatic G93A hSOD1 transgenic mice in an amyotrophic lateral sclerosis model
18480265 SOD1 is a master regulator of GF signaling and as a therapeutic target for the inhibition of angiogenesis and tumor growth
18476619 Microwave radiation could down-regulate the SOD activity in nasopharyngeal carcinoma cells.
18469020 Observational study of gene-disease association. (HuGE Navigator)
18428003 The phenotypic variability between SOD1 mutation carrying patients in this study is dramatic, even among patients with the same mutation.
18428003 Observational study of gene-disease association. (HuGE Navigator)
18424447 These data have demonstrated that a 'mini-SOD1' of only 115 amino acids is sufficient to cause ALS.
18423055 genotype distribution of the SOD1 in patients with diabetes mellitus can differ from nondiabetic individuals
18423055 Observational study of gene-disease association. (HuGE Navigator)
18415766 The primary factor causing the oxidative stress observed in rheumatoid arthritis and systemic lupus erythematosus is excessive free radical production rather than impaired catalase or superoxide dismutase activity due to autoantibody inhibition.
18393442 Measurements of hCCS-induced SOD1 activation were used to show that the C-terminal CXC sequence is both necessary and sufficient for EZn-SOD maturation.
18387669 Polymorphisms of CuZn-SOD, MnSOD, GSTM1 and GSTT1 in the placental tissue were not associated with preeclampsia.
18387669 Observational study of gene-disease association. (HuGE Navigator)
18384644 the interference with axonal transport and protein turnover by mutant SOD1 could influence the function and viability of motor neurons in ALS.
18337461 Endoplasmic reticulum-golgi apparatus pathway is a predominant cellular site of aggregation of mutant SOD1 suggests that secretion could play a key role in pathogenesi of lateral sclerosis.
18334481 These results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy.
18319614 Results investigate the role of mutant SOD1 in familial ALS by fusing human SOD1 genes with a PEP-1 peptide in a bacterial expression vector to produce in-frame PEP-1-SOD fusion proteins.
18316367 disulfide cross-linking has a limited roled in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis
18307039 Results describe the activity of ferroxidase, SOD1, and cofactors in CSF of patients with Parkinson's disease, Alzheimer's disease, Huntington's disease, or amyotrophic lateral sclerosis.
18305395 The results suggest that SOD Ala16Val polymorphism is an age-dependent modulator of ox-LDL-C levels in middle-aged men and elderly women.
18301754 pathological characterized pathological SOD1 mutants byinvestigating their propensity to aggregation
18282652 Gain-of-function mutations in the Cu,Zn-superoxide dismutase (SOD1) gene are implicated in progressive motor neuron death and paralysis in one form of inherited amyotrophic lateral sclerosis (ALS).
18273717 SOD1 glycine93aspartate mutation, found in DNA extracted from the hair bulbs in two deceased obligate carriers, causes a slowly developing lower motor neuron disease with a reduced penetrance.
18268245 Observational study of genotype prevalence. (HuGE Navigator)
18268245 Our data indicate that studies from referral centers may overestimate the frequency of familial ALS and of SOD1 mutations in sporadic ALS.
18246065 These findings demonstrate that mutant SOD1 astrocytes are viable targets for therapies for slowing the progression of non-cell autonomous killing of motor neurons in ALS.
18243716 Superoxide dismutase overexpression protects dopaminergic neurons in a Drosophila model of Parkinson's disease.
18239850 SOD1 is essential for the preservation of cytoskeleton integrity
18233996 Misfolding of amyotrophic lateral sclerosis-related mutant SOD1 induces endoplasmic reticulum stress, which may contribute to the motor neuron degeneration in amyotrophic lateral sclerosis pathogenesis.
18211954 Toxicity of mutant SOD1 is partially mediated through heterodimer formation with SOD1(hWT) in vivo and does not correlate with the aggregation potential of individual mutants.
18192269 principal protein in the high molecular mass aggregates whose appearance correlates with symptoms of the disease is the unmodified, full-length SOD1 polypeptide
18191946 From case study this study suggested degeneration of the dentatorubral system and the absence of LBHIs in our case are pathological features in FALS with the Gly93Ser mutation.
18160848 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
18081837 Consistent with the altered morphology of Prefrontal cortical regions, SOD1 mutant mice showed impaired extinction of conditioned fear.
18057069 A genome-wide association study of sporadic ALS in a homogeneous Irish population was conducted.
18055113 The conserved minimal haplotype is statistically more similar to Asian than European population DNA sets, suggesting that the SOD1 A4V mutation arose in native Asian-Americans who reached the Americas through the Bering Strait.
18054242 Transgenic mice that have a restricted expression of mutant SOD1 have pathological abnormalities of motor neurons confined to cells that express mutant SOD1.
18033592 Evidence for different pattern of cortical neuronal vulnerability in homD90A SOD1 amyotrophic lateral sclerosis(ALS) versus sporadic ALS that may provide insight as to their slower rate of disease progression.
18006498 Removal of Cysteine-111 impairs the ability of mutated SOD1 to form disulfide cross-linking is associated with familial amyotrophic lateral sclerosis.
17992192 Our results provide the first cell-by-cell-analysis of SOD1 ubiquitination and chaperone interaction
17987632 This is the first report in which the presence of SOD1 (iso) forms in a cellular model of ALS has been evidenced.
17979159 To understand the role of SOD1 mutations in the pathophysiol of FALS we compared the pattern of proteins expressed in human neuroblastoma cells with those of cell lines transfected with plasmids expressing the wild-type SOD1 and the H46R and G93A mutants.
17925878 the Lewy body-like hyaline inclusion/astrocytic hyaline inclusion in mutant SOD1-linked familial amyotrophic lateral sclerosismay arise from ER dysfunction
17914031 Observational study of gene-disease association. (HuGE Navigator)
17914031 Multiple variations (single nucleootide polymorphisms0 in SOD1 are significantly associated with persistent microalbuminuria and severe nephropathy.
17903209 Observational study of gene-disease association. (HuGE Navigator)
17902702 A nmultinuclear copper (I) cluster forms the dimerization interface in copper-loaded human copper chaperone for SOD1.
17888947 The crystal structure of a zinc-deficient human SOD shows that its stabilization as a heterodimer with Cu,Zn SOD may contribute to the dominant inheritance of ALS mutations.
17823119 Results suggest that the sumoylated COOH terminus of EAAT2 associates with the promyelocytic leukemia nuclear bodies in hSod1 mutatnt transgenic mice.
17786603 After intravenous injection into irradiated pre-symptomatic SOD1-G93A mice, hMSC survived more than 20 weeks in recipient mice, migrated into the parenchyma of brain and spinal cord and showed neuroglia differentiation.
17725983 SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content and is associated with amyotrophic lateral sclerosis
17715066 Transgenic mice form a least common denominator amongst SOD1 mutants with widely different molecular characteristics and might be involved in the cytotoxicity that causes lateral sclerosis.
17689501 The level of LC3-II, which is known to be correlated with the extent of autophagosome formation, was increased in SOD1G93A transgenic mice at symptomatic stage compared with non-transgenic or human wild-type SOD1 transgenic animals.
17683925 superoxide dismutase 1 mRNA levels were reduced in peripheral mononuclear cells after copper supplementation
17683122 The increased plasticity of the apo G37R asSOD1 mutant protein is responsible for its enhanced tendency to aggregate in concentrated solutions. These results suggest that metal-free apo forms of the mut. SOD1 protein are the agents of its toxicity.
17667843 Suggest that higher circulating Cu/Zn SOD could protect type 1 diabetes mellitus children/adolescents against endothelial dysfunction. Low Cu/Zn SOD is a potential early marker of susceptibility to diabetic vascular disease.
17664146 SOD1 weakly increased the rate of decomposition of S-nitrosylated glutathione
17652584 Mutant SOD1 gains a novel function possibly by altering the ribonucleoprotein complex with vascular endothelial growth factor (VEGF) 3'-untranslated region in amyotrophic lateral sclerosis transgenic mice.
17646272 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17646272 No significant association with prostate cancer was observed for polymorphic variants in SOD1.
17636481 Our data suggest that this TATA box defect is not a disease-causing mutation or susceptibility factor for ALS but rather a rare polymorphism with a potential effect on SOD1 gene expression.
17636250 Overexpression of mutant human SOD1 in zebrafish embryos induced a motor axonopathy that was specific, dose-dependent and found for all mutations studied.
17636119 identify a shared molecular event involving a known target gene and suggest a common step in the pathogenesis between sporadic Amyotrophic lateral sclerosis (ALS) and familial ALS
17634480 Observational study of gene-disease association. (HuGE Navigator)
17624778 The missense mutation of SOD1 gene in two of the three alleles could have increased its toxic effects in the Down syndrome patient leading to an earlier onset and rapid progression of the disease.
17602442 This study demonstrates a homogeneous overexpression of the genes encoding for SOD in nuchal skin of human trisomy 21 fetuses.
17592131 Absence of zinc and copper ions is clearly a major factor determining the propensity of SOD1 protein to oligomerize and form the toxic species that may cause SOD1-linked amyotrophic lateral sclerosis.
17573040 This data suggests that the regulation of O2(.-) is located at the crossroads between LDL signaling and cell proliferation.
17555556 Thus, relative to wild-type microglia, mSOD1(G93A) microglia were more neurotoxic and induced more motoneuron injury than similarly treated wild-type microglia.
17549529 Mutations determine age of onset of amyotrophic lateral sclerosis.
17549011 H46R mutant SOD1 transgenic mice are characterized by widespread pathologic changes of the spinal cord that extend beyond the motor system, including many aggregates lacking vacuoles.
17548825 Molecular dynamics using atomic-resolution structure reveal structural fluctuations that may lead to polymerization of SOD.
17513298 copper/zinc superoxide dismutase mutations preferentially reduce the repulsive charge of the proteins in amyotrophic lateral sclerosis
17504823 SOD1 mutation has a role in amyotrophic lateral sclerosis
17483589 This is a first case of slowly progressing amyotrophic lateral sclerosis caused by H46R SOD1 mutation of Parkistani descent.
17469116 the absence of pathological TDP-43 in cases with SOD1 mutations implies that motor neuron degeneration
17463094 Alteration of these mutant SOD1-induced pathways identified a set of targets for therapies for inherited Amyotrophic Lateral Sclerosis
17457363 overexpression of SOD1 in the Tg rats results in an increase in endogenous pPRAS40 and a decrease in motor neuron death through the PI3K/Akt pathway.
17453634 therefore examined the methylation status of two genes, SOD1 and VEGF, which are implicated in ALS.
17453632 mutation evaluation & clinical features examination in a Korean family with amyotrophic lateral sclerosis; a point mutation in exon 1 of the SOD1 gene, resulting in an amino acid change from phenylalanine 20 to cysteine, was identified
17420412 Cortical 5-HT1A receptor binding in patients with homozygous D90A SOD1 vs sporadic ALS.
17418947 These results demonstrate that altered SOD1 activity (mSOD(G93A)) in BMDCs affects striatal damage probably through a mechanism involving a systemic factor.
17394531 These data suggest that mitochondrial-produced O(2) (*) radicals play a critical role in mutant SOD1-mediated neuronal toxicity and implicate mitochondrial-produced free radicals as potential therapeutic targets in ALS.
17381088 communication between the two monomers of SOD1 such that the binding of one zinc ion per homodimer has a more profound effect on the homodimeric protein structure than the binding of subsequent metal ions
17368952 in vivo evidence correlates mutation of the SOD1 gene to increased nitric oxide, nitration and oxidation of proteins in amyotrophic lateral sclerosis
17336361 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
17328801 Occurrence of severe abnormalities, such as cell fusions and cytorrhexis, in microglia of SOD1G93A transgenic rats may be the result of expression of mutant SOD1 in these cells.
17324120 Data show that activation of brain calcineurin (Cn) by Cu-Zn superoxide dismutase (SOD1) depends on direct SOD1-Cn protein interactions occurring in vitro and in vivo.
17299743 Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS.
17292357 Motor terminals innervating fast hindlimb muscles in male SOD1-G93A mice become especially susceptible to ischemia/reperfusion injury at a young age.
17272778 Overexpression of transgenic SOD1 in hyperglycemic rats reduces blood-brain barrier permeability and matrix metalloproteinase-9 activation after transient focal cerebral ischemia.
17257622 We report a novel missense mutation (Asp109Tyr) in exon 4 of the Cu/Zn superoxide dismutase (sod1) gene in a woman with apparently sporadic amyotrophic lateral sclerosis (SALS).
17255946 Impaired post-translational folding is found in familial ALS-linked Cu, Zn superoxide dismutase mutants.
17171548 Systemic activity of the enzymatic antioxidants (CuZn/SOD, MnSOD, GSH-Px, and CAT) as well as level of lipid peroxidation determined by MDA may not be increased in the course of immune-inflammatory processes associated with chronic idiopathic urticaria.
17164329 SOD1-mutant-mediated damage within muscles is not a significant contributor to non-cell-autonomous pathogenesis in ALS, and enhancing muscle mass and strength provides no benefit in slowing disease onset or progression.
17157513 Dorfin-CHIP(L) rescued neuronal cells from mutant SOD1-associated toxicity and reduced the aggresome formation induced by mutant SOD1 more effectively than did Dorfin(WT).
17157186 Modification of cysteine 111 in human Cu,Zn-superoxide dismutase.
17097745 Stable overexpression of SOD1 caused significant decreases in superoxide and nitric oxide production, with concurrent increases in hydrogen peroxide following LPS. Important role in redox-sensitive inflammatory signaling and neurotoxic inflammation.
17092942 mutations at copper ligand histidine residues of superoxide dismutase 1 diminish the binding of copper and compromise dimer stability
17077646 analysis of the acute and rapid endothelial cell endocytosis of CuZn-SOD via activation of a receptor-mediated pathway
17065353 Diabetes significantly suppressed PGIS activity in parallel with increased superoxide and PGIS nitration in the aortas of diabetic C57BL6 mice but had less effect in diabetic mice either lacking eNOS or overexpressing human SOD.
17056476 CuZnSOD activity was significantly lower in gastric adenocarcinoma samples with respect to normal mucosa. The rate of MnSOD/CuZnSOD activity in adenocarcinoma was over ninefold higher than that registered in healthy tissues
17038899 Human neural stem cells transplanted into rats transgenic for SOSD1 the lifespan of fulminant motor neuron disease animals.
17005595 Mean relative levels of SOD1 & its mRNA were significantly decreased in women > or =38 years, which may account for granulosa-cell changes associated with reproductive aging.
16989689 Observational study of gene-disease association. (HuGE Navigator)
16973244 Our data suggest that deficiency in the ALS2 gene does not affect the pathogenesis of SOD1(G93A) mice.
16963403 This study identified a heterozygous mutation of ATT to ACT of SOD1 gene at codon 149 in exon 5 resulting in substitution of isoleucine to threonine.
16952453 Observational study of gene-disease association. (HuGE Navigator)
16952453 Comparison of the clinical characteristics with previously reported sporadic amyotrophic lateral sclerosis (ALS) patients carrying the same or similar SOD1 gene mutations showed a remarkable genotype-phenotype correlation.
16945901 12 different familial amyotrophic lateral sclerosis mutant SOD1s with widely differing biophysical properties are associated with mitochondria of motoneuronal cells.
16943203 ubiquitination occurs only after SOD1 aggregation
16920710 both macroautophagy and the proteasome are important for the reduction of mutant SOD1-mediated neurotoxicity in amyotrophic lateral sclerosis
16903849 Our results suggest that mitochondrial vulnerability of motoneurons to G93ASOD1 is recapitulated in NSC-34 cells, and that peculiar features in network dynamics may account for the selective alterations of motoneuronal mitochondria.
16895791 TNF-alpha down-regulates human Cu/Zn superoxide dismutase 1 promoter via JNK/AP-1 signaling pathway
16880213 there is a critical balance between cellular reductants such as glutaredoxin and copper activation pathways in controlling the disulfide and stability of SOD1 in vivo
16877401 A unique genomic deletion within intron 2 close to the 5' splice junction of the SOD1 gene was identified in three patients with KC.
16871233 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
16868544 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16857362 By crossing this transgenic line with mice that express SOD1(G93A) and mice that express wild-type human SOD1, we found that this shRNA specifically silences the mutant, but not the wild-type SOD1
16847061 In rat mutants, a significant up-regulation of unfolded protein response entities was observed during disease, including several caspases.
16798882 structure of this putative ALS precursor is strikingly similar to those implicated in amyloid disease
16792821 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
16780879 the localization of Cu/Zn- and Mn-SODs in adrenal tissues reflects the specificity of the adrenal cells that produce the tissue-specific hormones
16758302 The results of this study revealed that, MPO, XO and SOD conditions in gastric mucosa alone were not affected from HP presence. That's why MPO, XO, and SOD may not have important roles in the pathogenesis of HP related gastric disease in children.
16741123 expression of SOD1 within motor neurons was shown to be a primary determinant of disease onset and of an early phase of disease progression
16730180 Ribonucleoprotein complex formation on SOD1 mRNA as a neuronal tissue-specific and Amyotrophic lateral sclerosis associated mutation.
16716900 Sod1 knockout mice have a dramatic accleration of age related muscle mass loss and a 20% reduction in body weight.
16674979 Observational study of genotype prevalence. (HuGE Navigator)
16644738 In the disulfide-reduced form, A4V apoSOD1 exchanged like a "random coil" polypeptide at 20 degrees C and began to populate folded states at 4 degrees C.
16636275 Data show a molecular mechanism by which SOD1 is converted to aggregated and apparently ALS-associated toxic dimers and multimers by redox processes.
16600249 overexpression of Cu, Zn-SOD and/or catalase in smooth muscle cells attenuates the cell proliferation caused by oxLDL stimulation
16584877 The activity of erythrocyte Cu/Zn SOD was altered in type 2 diabetic patients.
16583143 various mutations have different effects on SOD1 aggregation potential and the H80G mutation appears to uniquely act as a dominant inhibitor of SOD1 aggregation.
16567804 caspase-3 cleavage of EAAT2 is one mechanism responsible for the impairment of glutamate uptake in mutant SOD1-linked amyotrophic lateral sclerosis
16540901 The expression of SOD1 was higher in polyp tissues. These results are consistent with previously reported data and support the hypothesis that there is increased oxidative stress in NP.
16525202 marker of severity in the very early stages of acute pancreatitis
16467073 Observational study of gene-disease association. (HuGE Navigator)
16435343 the phenotypic spectrum of ALS associated with SOD1(G72C) mutations to include presenting features that mimic a myopathy.
16424062 Observational study of gene-disease association. (HuGE Navigator)
16423367 Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of an I113T SOD1 mutation.
16407238 Glycine 93 mutants of superoxide dismutase (SOD) 1 have an increased propensity to misfold or aggregate, which may be linked to increased toxic mutant SOD aggregation in familial amyotrophic lateral sclerosis.
16406071 Data raise suggest that in a cellular environment with low availability of free copper, Zn-Zn may be the preferred metallation state of superoxide dismutase 1 prior to its interaction with the copper chaperone.
16291929 The authors analyzed the relative amount of mutant compared with normal SOD1 protein in the erythrocytes from 29 patients with ALS with 22 different mutations. Turnover of mutant SOD1 correlated with a shorter disease survival time.
16291742 solution structure of the copper-depleted, disulfide-reduced form of human SOD1
16191429 heparin-released EC-SOD is significantly reduced in coronary artery atherosclerosis
16132821 The copper chaperone CCS is responsible for copper insertion into apo-SOD1.
16105836 analysis of S134N Cu,Zn-superoxide dismutase and its mobility and intermolecular contacts in solution
16094314 SOD1 deficiency impairs H2O2-mediated activation of NF-kappaB, decreasing death-promoting signals, and leading to better outcome.
16084730 mutant SOD1 and truncated SOD1 lead to neural cell death because of misfolding, and SOD1 peptides, possibly as a result of proteolytic digestion of mutant SOD, play a role in pathogenesis in amyotrophic lateral sclerosis
16046141 Using different cell lines of neuronal origin and modulating the expression of both mutant SOD1s and Apaf1, we show that the removal of Apaf1 prevents cells death.
16046140 The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 proteins in the neuromuscular unit is sufficient to cause motor neuron disease.
16036425 Observational study of gene-disease association. (HuGE Navigator)
16020530 ALS-mutant apoproteins are not universally destabilized by the disease-causing mutations.
16000635 Overexpression of wild-type human SOD1 blocked motor neuron apoptosis. Injured MNs in mice harboring mutant human SOD1 had upregulated Fas and iNOS, more DNA damage, & accelerated & increased MN degeneration & underwent necrosis instead of apoptosis.
16000321 Truncated human SOD1 is associated with motor neurons disease in mice
15990193 Genetic variants of the SOD gene is associated with insulin resistance and the susceptibility to type 2 diabetes.
15961078 Oxidized SOD1 inhibits purified proteasome peptidase activities and may be partially responsible for proteasome inhibition shown in SOD1 transgenic mice.
15909112 FAS overexpression was significantly reduced in cortex of transgenic mice overexpressing both wild-type hAPP gene & wild-type human superoxide dismutase-1 gene. hSOD-1 expression was associated with increase of Glial fibrillary acidic protein production.
15870505 Adenovirus-mediated gene transfer of superoxide dismutase and catalase reduced oxidative stress, restenosis, collagen accumulation, and inflammation and improved endothelial function after angioplasty.
15869407 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
15851752 Brachial amyotrophic diplegia is associated with a novel SOD1 mutation (L106P).
15829914 In SOD1 Tg mice, MCP-1 and MIP-1 alpha mRNA expression was significantly decreased 12 h postinsult
15829169 the pathogenesis of increased oxidative stress differs between sporadic amyotrophic lateral sclerosis patients and familial ALS patients with a mutant Leu126Ser SOD1 gene.
15816858 Overexpression of human copper/zinc-superoxide dismutase reduces oxidative stress with a subsequent decrease in apurinic/apyrimidinic endonuclease expression.
15812313 pyruvate significantly reduced the death and production of reactive oxygen species in cells expressing mutant SOD1
15799963 SOD1 mutants gain fatty acid binding abilities based on their structural instability and form cytotoxic granular aggregates
15789135 Observational study of genotype prevalence. (HuGE Navigator)
15789135 Within FALS(familial amyotrophic lateral sclerosis) cases, The most frequent mutation was the G41S identified in four FALS.
15758154 In addition to being in the mitochondrial outer membrane and intermembrane space, SOD1 is also localized in the mitochondrial matrix of brain mitochondria
15755678 Accumulation of soluble and detergent-insoluble mutant SOD1 in spinal cord of symptomatic SOD1G93A transgenic mice is due to impaired degradation of mutant SOD1 rather than to increased transcript levels.
15753080 Mutant SOD1 proteins may impair chaperone function independent of gene expression in vivo, and this inhibition may be a shared property of amyotrophic lateral sclerosis-linked mutant SOD1 proteins.
15743779 Superoxide dismutase is inactivated in asthmatic airway remodeling
15691826 the earliest disulfide-reduced polypeptides in the SOD1 assembly pathway are most destabilized with respect to unfolding and oxidative aggregation by amyotrophic lateral sclerosis-causing mutations
15672551 mutant SOD1 overexpression promotes neither beta-amyloid toxicity nor brain accumulation in amyotrophic lateral sclerosis models
15634772 These results suggest novel extracellular roles for SOD1 in amyotrophic lateral sclerosis and support a causal relationship between mutant SOD1 secretion and intraneuronal toxicity.
15629867 Cu-Zn superoxide dismutase expression in humans is detected in pulmonary epithelial cells by Western blot.
15623718 Observational study of gene-disease association. (HuGE Navigator)
15623718 4 SNPs (-3392G/T, +2811G/A, +6782 A/C, & +18636C/G)and a 50 bp deletion, -1684del, showed no association with sporadic amyotrophic lateral sclerosis phenotype or susceptibility.
15579468 Rac1, PI3 kinase, and Akt3 have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 mutant-induced motoneuronal cell death
15576639 SOD expression in endothelial cells attenuates TNF-alpha-induced superoxide production & adhesion molecule expression by decreasing JNK & p38 phosphorylation and AP-1 & NF-kB inactivation. SOD may play a role in preventing atherosclerosis & inflammation.
15546588 Observational study of gene-disease association. (HuGE Navigator)
15531919 Deficiency in mice increased cell proliferation in the presence of persistent oxidative damage to macromolecules contributes to hepatocarcinogenesis later in life.
15531919 Sod1 knockout mice develop hepetocellular carcinoma and exhibit a 30% reduction in lifespan.
15522970 impaired ability to form, or retain, the C57-C146 bond in vivo is predicted to increase the cellular load of marginally stable apoSOD monomers, which may have implications for the amytrophic lateral sclerosis neuropathology
15507437 mutant SOD1 but not the wild type bound directly to the neurofilament mRNA 3'-untranslated region and that the binding was necessary to induce mRNA destabilization
15488469 Expression of a familial amyotropic lateral sclerosis-associated mutant SOD1 in yeast leads to decreased mitochondrial transport.
15485869 combining sedimentation data with previous crystallographic results, a molecular explanation is provided for existence of different copper-zinc superoxide dismutase (SOD1) macromolecular shapes and multiple dimeric species with different stabilities
15475574 familial amyotrophic lateral sclerosis-linked SOD1 aggregation occurs by a mutation-induced increase in dimer dissociation and/or increase in apomonomer formation
15474511 SOD1 carries out a neuromodulatory role affecting calcium-dependent cellular functions
15473258 The present study demonstrated that both SOD1 and the metal-free form of enzyme (Apo SOD1) inhibit HMG-CoA reductase gene expression in HepG2 cells, in normal human fibroblasts, and in fibroblasts of subjects affected by familiar hypercholesterolemia.
15465081 Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions.
15379995 In transgenic mice, shows neuron degeneration and brain atrophy in a mouse model of lateral sclerosis.
15358145 Results suggest that co-chaperone CHIP, possibly with another E3 ligase(s), modulates the ubiquitylation of mutant Cu/Zn-superoxide dismutase and renders them more susceptible for proteasomal degradation.
15350647 SOD1 G93A mutation, leading to amyotrophic lateral sclerosis in humans and mice, does not necessarily worsen neuronal degeneration in other pathologies.
15338334 Cu, Zn- and MnSOD levels were significantly increased in frontal cortex and substantia innominata of the index group in schizophrenia
15326189 Data show that reduction leads to a change in the quaternary structure of superoxide dismutase 1, decreasing the monomer-to-dimer equilibrium constant by at least four orders of magnitude.
15304256 peroxynitrite reacts with CuZnSOD leading to nitrogen dioxide plus a copper-bound hydroxyl radical species that reacts with histidine residues, forming histidinyl radical
15295091 the immature brain has limited GPX activity and is more susceptible to oxidative damage and may explain the paradoxical effect seen in ischemic neonatal brain when SOD1 is overexpressed.
15288122 When transfected into mice, induces mitochondrial swelling, vacuolization, or learning and memory deficits.
15263088 Lateral sclerosis G93A SOD1 amino acid substituted transgenic mice show a metabolic deficit and skeletal muscle hypermetabolism, controlled by a highly energetic diet which extended survival
15258228 Observational study of genotype prevalence. (HuGE Navigator)
15223614 Erythrocyte superoxide dismutase activity was found to be significantly lower in patients with pneumothorax than in the control group.
15223067 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
15193434 Data show that G93A superoxide dismutase (SOD), like wild-type SOD, protects calcineurin against inactivation.
15166009 Review. Blood vessels express 3 isoforms of superoxide dismutase, 1 of which is cytosolic or copper-zinc SOD. This review will focus mainly on the role of individual SODs in relation to endothelium under normal conditions and in disease states.
15123612 HCO(3)(-)-derived oxidant does not alter significantly the Cu(II) active site geometry and histidine coordination to Cu(II) in SOD1 as does H(2)O(2) alone
15109247 An intersubunit disulfide bond prevents in vitro aggregation of a SOD1 mutant linkd to familial amyotrophic lateral sclerosis.
15068249 Awake parameters in mice transgenic for human SOD-1 (S/+) are the same in S/+ and control mice, whereas paradoxical sleep (PS) decreased and PS latency increased after lights off in S/+ mice.
15050437 the two SOD1 mutants, by an unknown mechanism, promote the dispersion of the golgi apparatus and the dysfunction of the secretory pathway
15050430 N139H is the fifth SOD1 gene mutation reported in Spain, and the first one presenting with incomplete penetrance.
15016076 Combined increase in amyloid precursor protein (APP) and SOD1 in a double-transgenic (tg)-APP-SOD1 mouse results in severe impairment in learning, working and long-term memory.
15006704 In transgenic mice the SOD1 G93A mutation causes changes in the AMPA-receptor expression and function, as well as susceptibility to kainate-mediated excitotoxicity, which may promote the motor neuron degeneration seen in ALS
14988262 reduced NO-superoxide interaction in SOD-transgenic-db/db mice.
14981234 Silencing of mutant SOD1 protects cells against cyclosporin A-induced cell death.
14978393 15% of amyotrophic lateral sclerosis cases are associated with an abnormality in the SOD1 gene. (REVIEW)
14975589 Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells
14970233 Expression of alsin LF, but not alsin short form, protected motor neuronal cells from toxicity induced by mutants of the Cu/Zn-superoxide dismutase (SOD1) gene, which cause autosomal dominant ALS
14759637 This study analyzed 33 fALS patients and found 10 mutations in SOD1 gene, in which two were novel: Asp101His substitution in exon 4 and Gly141Glu substitution in exon 5.
14734542 monomeric Cu,Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis
14711010 Cu,Zn superoxide dismutase and nitric oxide synthase have roles in neurodegenerative processes (review)
14690536 Overexpression of SOD1 in astrocytes rapidly reduces glutamate transporter GLT-1 levels due to a property shared between the wild-type and SOD1(G93A) mutant form that does not involve production of intracellular oxidative stress.
14684739 interaction among misfolded SOD1, NEDL1, translocon-associated protein-delta, and Dishevelled-1 forms a ubiquitinated protein complex that is included in potentially cytotoxic protein aggregates
14596848 SOD1(G93A) mutation in mice induces changes in AMPAR functions which may underlie the increased vulnerability of motor neurons to glutamatergic excitotoxicity in ALS.
14578853 Cu/Zn-SOD in cytosol and Mn-SOD in mitochondria each are capable of protecting HepG2 cells expressing CYP2E1 against cytotoxicity induced by pro-oxidants.
14568129 The presence of G93A mutant human SOD1 in transgenic mice alters survival of phosphorylated-AKT kinase and -ERK kinase signals, possibly to compensate for the acquired gain-of-function of the mutant protein.
14526083 toxicity to motor neurons is shown to require damage from mutant SOD1 acting within nonneuronal cells; nonneuronal cells that do not express mutant SOD1 delay degeneration and significantly extend survival of mutant-expressing motor neurons
14506936 sixteen SOD1 mutations in amyotrophic lateral sclerosis bringing the total number of SOD1 gene mutations to 105.
13129804 This study examined the clinical features of the first Italian FALS with the Leu144Phe SOD1 mutation. Seven affected members were identified in a six-generation pedigree.
13129803 This study present three members of a pedigree with familial amyotrophic lateral sclerosis (FALS) who have a rare mutation in exon 4 of Cu/Zn superoxide dismutase (SOD1) codon position 89, converting alanine to valine.
12972170 Mutant human SOD1 aggregates widely reported in neural tissues accumulate in hindlimb skeletal muscle of transgenic SOD1(G39A) mice in a model of amyotrophic lateral sclerosis.
12963370 These results support free-cysteine-independent aggregation of FALS mutant SOD as a part of FALS pathology. They furthermore provide a molecular basis for the single FALS disease phenotype resulting from mutations of side-chains throughout the protein
12963085 overexpression of superoxide dismutase 1 protects against beta-amyloid peptide toxicity
12921788 Glycoaldehyde inactivates SOD1.
12871978 in normal human cells the SOD1 protein may play a role in the regulation of cellular lifespan by p53 and may also regulate the death signals in cancer cells
12871577 Effects of overexpression of wild-type SOD-1 or the G37R or G85R mutations on the accumulation of ubiquitinated and nitrated proteins and on loss of cell viability induced by the proteasome inhibitor lactacystin were examined
12818209 The unfolding and refolding of a monomeric mutant of copper-zinc superoxide dismutase was investigated by NMR spectroscopy in the copper-reduced form and by using guanidinium chloride as denaturing agent
12815046 Mechanisms of biosynthesis of copper/zinc superoxide dismutase
12787913 SOD1 was measured in the blood from patients with diabetes mellitus, insulin-dependent.
12783432 Observational study of gene-disease association. (HuGE Navigator)
12783432 a new SOD1 mutation is identified in amyotrophic lateral sclerosis
12774661 SOD1 was elevated in diabetic patients with toenail infections treated with antioxidants and antifungal agents compared to healthy individuals.
12754496 Here we show that metal-deficient SOD1 mutant proteins crystallize in three different crystal forms, all of which reveal higher-order assemblies of aligned beta-sheets.
12753090 Expression of G93A ALS-linked Cu,Zn superoxide dismutase mutant in neuroblastoma cells activates proteasomes and down-regulates neuronal nitric oxide synthase suggesting cross-talk between reactive oxygen and nitrogen species via the proteasome pathway
12738898 SOD1 may contribute to the early activation of the Akt cell survival signaling pathway and may attenuate subsequent DNA damage after transient focal cerebral ischemia in human SOD1 transgenic mice
12732844 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12729761 structure of holo and metal-deficient wild-type human Cu, Zn superoxide dismutase
12718436 Caspase-1 and -3 mRNAs are differentially upregulated in motor neurons and glial cells in spinal cord of mice that are transgenic for this enzyme.
12710516 In this paper provided the clinical and neuropathological feature os a FALS patient with the G37R mutation in exon 2 of the SOD1 gene.
12710511 Observational study of gene-disease association. (HuGE Navigator)
12686560 Trp-32 oxidation is crucial for covalent aggregation of hSOD1 induced by bicarbonate mediated peroxidase activity
12659845 data suggest that endoplasmic reticulum stress is involved in the pathogenesis of familial amyotrophic lateral sclerosis with an SOD1 mutation
12649272 the strong oxidant formed by hydrogen peroxide and SOD1 in the presence of bicarbonate arises from a pathway mechanistically distinct from that producing the oxidant in its absence.
12644909 This review is a critical survey of in vitro characteristics of over 30 of the 90 different CuZnSOD mutant proteins known to cause familial amyotrophic lateral sclerosis, in order to determine the differences between mutant and wild-type properties.
12626552 Overexpression of SOD1 increases release of TNF-alpha, VEGF, and metalloproteinases MMP-2 and MMP-9 from cultured, activated peritoneal macrophages, and increases TNF-alpha levels in the serum, as well as the delayed-type hypersensitivity response.
12606529 results suggest that high glucose flux through aldose reductase inhibits the expression of catalase, CuZn superoxide-dismutase and glutathione peroxidase
12597246 Erythrocyte SOD activity and glutathione system are altered in men with new diagnosed BD. These alterations may be contributory factor for tissue damage associated with BD.
12590575 The large number of Cu/Zn SOD-related ALS mutations at residue 93 indicates that the loss of the glycine and not the addition of an alanine is an important factor in the pathology arising from G93A Cu/Zn SOD.
12573532 Cu-Zn superoxide dismutase is exported by microvesicular granules
12531528 Data show that overexpression of wild-type superoxide dismutase 1 in cells expressing mutant forms of the enzyme significantly enhanced cell survival and reduced apoptosis after serum deprivation.
12502789 Phenotypic effects of familial amyotrophic lateral sclerosis mutant alleles in transgsenic Drosophila
12485882 Expression is implicated in placenta development.
12480087 There is a novel mutation in this gene in a Korean family with amyotrophic lateral sclerosis.
12475980 The cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, nitric oxide synthetic pathways and mutations in this enzyme.
12458194 Mutants of this enzyme in amyotrophic lateral sclerosis are susceptible to disulfide reduction.
12447480 Malignsant lung tumors (squamous cell carcinoma and adenocarcinoma) had significantly decreased levels of this enzyme.
12442272 Authors propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.
12441104 identifed and characterized key stability and structural differences resulting from the A4V mutation; architectural destabilization of the HSOD protein may underlie the toxic function of HSOD familial amyotrophic lateral sclerosis mutations
12437574 Sustained expression of mutant SOD1 leads to proteasomal inhibition and motor neuronal death, which in part explains the pathogenesis of mutant SOD1-linked ALS
12402272 This mutation (H80A) is believed to alter zinc ligand binding, and its functional significance correlates well with the aggressive clinical course and postmortem findings.
12393885 Mitochondrial localization of mutant enzyme triggers caspase-dependent cell death in a cellular model of familial amyotrophic lateral sclerosis
12356748 Oxidation of select histidine residues that bind metals in the active site mediates SOD1 aggregation
12270693 Erythrocyte analyses of CuZn-superoxide dismutase in D90A heterozygotes find no evidence that the putative protective factor in recessive families acts by downregulating the synthesis or altering the molecular structure or turnover of the mutant enzyme.
12218958 The role of superoxide dismutase in human diseases is discussed [review]
12215228 SOD1 D76V mutation identified in four family members predicts a long survival and shows genotype-phenotype correlation.
12213295 The combination of Hsp70 abd Hsp40 reduced intracytoplasmic aggregates and improved neurite outgrowth, and were upregulated in cells expressing mutant SOD1.
12210393 genetic heterogeneity of patients with ALS harboring mutations in the SOD1 gene
12145308 SOD1 mutants are recognized by Dorfin protein and targeted for proteasomal degradation
12144846 antioxidant effects of human CuZn-SOD reduce cellular edema due to oxidative stress during reperfusion but not during ischemia after 1 h middle cerebral artery occlusion
12138710 causative genes for familial amyotrophic lateral sclerosis
12127151 Transgenic mice expressing human SOD1 with ALS-linked mutations at 2 of the 4 His residues crucial for coordinated copper binding (H46R/H48Q develop motor neuron disease with fibrillar inclusions like mice with G37R, G58R, and G93A variants.
12099681 Effect of Cu,Zn superoxide dismutase on cholesterol metabolism in human hepatocarcinoma (HepG2) cells
12050154 causes dysfunction of oxidative phosphorylation in mitochondria of transgenic mice
12039658 Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis. missense mutation (Ala140Gly) in exon 5
11996514 mutations of the gene have been linked to familial amyotrophic lateral sclerosis - review
11951178 Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.
11930144 Homocysteine (HC) mediates oxidative cytotoxicity in cultured motor neurons by toxic gain of function of mutant SOD1 (A4V) indicating that motor neurons containing mutant SOD1 may be more susceptible to physiological concentrations of HC.
11912919 Transcriptional regulation and environmental induction of gene encoding copper- and zinc-containing superoxide dismutase.
11854285 14 different variants of human copper/zinc superoxide dismutase (SOD1) associated with familial amyotrophic lateral sclerosis
11854284 mutant superoxide dismutases associated with familial amyotrophic lateral sclerosis
11771762 Antioxidant proteins in fetal brain: superoxide dismutase-1 (SOD-1) protein is not overexpressed in fetal Down syndrome.
11756571 Cu,Zn-SOD and Mn-SOD are differently regulated by estrogen and progesterone in human endometrial stromal cells
11675874 Observational study of genotype prevalence. (HuGE Navigator)
11675874 This study searched for the D90A CuZn-SOD mutation in different ethnic populations of the Russian Federation and found it in locations close to the Scandinavian peninsula and in remote populations in Asia, making this mutation the most common globally.
11561030 Observational study of gene-disease association. (HuGE Navigator)
11350569 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

AGSRLACGVIGIAQ                                                            141 - 154

Text Mined References (923)

PMID Year Title
27264826 2016 [Association of extracellular superoxide dismutase gene methylation with cerebral infarction].
27002158 2016 Enhancing NAD+ Salvage Pathway Reverts the Toxicity of Primary Astrocytes Expressing Amyotrophic Lateral Sclerosis-linked Mutant Superoxide Dismutase 1 (SOD1).
26984187 2016 Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.
26947057 2016 Overexpression of human SOD1 in VDAC1-less yeast restores mitochondrial functionality modulating beta-barrel outer membrane protein genes.
26810478 2016 Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase.
26761025 2016 The Influenza Virus H5N1 Infection Can Induce ROS Production for Viral Replication and Host Cell Death in A549 Cells Modulated by Human Cu/Zn Superoxide Dismutase (SOD1) Overexpression.
26756888 2016 Calpastatin inhibits motor neuron death and increases survival of hSOD1(G93A) mice.
26719414 2016 Nonnative SOD1 trimer is toxic to motor neurons in a model of amyotrophic lateral sclerosis.
26710998 2016 Therapeutic rAAVrh10 Mediated SOD1 Silencing in Adult SOD1(G93A) Mice and Nonhuman Primates.
26707483 2016 Blockade of monocyte-endothelial trafficking by transduced Tat-superoxide dismutase protein.
26643113 2015 ?-synuclein interacts with SOD1 and promotes its oligomerization.
26637092 2015 [The level of superoxide dismutase expression in primary and metastatic colorectal cancer cells in hypoxia and tissue normoxia].
26619836 2016 Aberrant association of misfolded SOD1 with Na(+)/K(+)ATPase-?3 impairs its activity and contributes to motor neuron vulnerability in ALS.
26619801 2016 Hydrogen peroxide-mediated induction of SOD1 gene transcription is independent from Nrf2 in a cellular model of neurodegeneration.
26605911 2016 Shared Molecular Mechanisms in Alzheimer's Disease and Amyotrophic Lateral Sclerosis: Neurofilament-Dependent Transport of sAPP, FUS, TDP-43 and SOD1, with Endoplasmic Reticulum-Like Tubules.
26600047 2015 Mutant SOD1 Increases APP Expression and Phosphorylation in Cellular and Animal Models of ALS.
26599430 2015 Superoxide Dismutase 1 Regulation of CXCR4-Mediated Signaling in Prostate Cancer Cells is Dependent on Cellular Oxidative State.
26589182 2016 Direct structural evidence of protein redox regulation obtained by in-cell NMR.
26477504 2016 Superoxide dismutase 1 and glutathione peroxidase 1 are involved in the protective effect of sulodexide on vascular endothelial cells exposed to oxygen-glucose deprivation.
26362407 2015 Destabilization of the dimer interface is a common consequence of diverse ALS-associated mutations in metal free SOD1.
26298469 2015 Rab1-dependent ER-Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS.
26293199 2015 Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions.
26244336 2015 Time-Point Dependent Activation of Autophagy and the UPS in SOD1G93A Mice Skeletal Muscle.
26241492 2015 Down-regulation of superoxide dismutase 1 by PMA is involved in cell fate determination and mediated via protein kinase D2 in myeloid leukemia cells.
26125826 2015 Antioxidant content and cytological examination of aqueous fluid from patients with age-related cataracts at different stages.
26099300 2015 Thermal fluctuations of immature SOD1 lead to separate folding and misfolding pathways.
26084641 2015 Reduced net charge and heterogeneity of pI isoforms in familial amyotrophic lateral sclerosis mutants of copper/zinc superoxide dismutase.
26075819 2015 In vivo kinetic approach reveals slow SOD1 turnover in the CNS.
25998063 2015 State of the field: An informatics-based systematic review of the SOD1-G93A amyotrophic lateral sclerosis transgenic mouse model.
25947891 2015 Higher SOD1 Gene Expression in Cumulus Cells From Infertile Women With Moderate and Severe Endometriosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25908445 2015 The superoxide dismutase 1 3'UTR maintains high expression of the SOD1 gene in cancer cells: The involvement of the RNA-binding protein AUF-1.
25853911 2015 Expression of the ALS-causing variant hSOD1(G93A) leads to an impaired integrity and altered regulation of claudin-5 expression in an in vitro blood-spinal cord barrier model.
25825208 2015 Superoxide dismutase promotes the epithelial-mesenchymal transition of pancreatic cancer cells via activation of the H2O2/ERK/NF-?B axis.
25818327 2015 Superoxide Dismutase and Catalase Genotypes in Pediatric Migraine Patients.
25801590 2015 A correlation of reactive oxygen species accumulation by depletion of superoxide dismutases with age-dependent impairment in the nervous system and muscles of Drosophila adults.
25798606 2015 Genotype-property patient-phenotype relations suggest that proteome exhaustion can cause amyotrophic lateral sclerosis.
25792239 2015 Primary fibroblasts cultures reveal TDP-43 abnormalities in amyotrophic lateral sclerosis patients with and without SOD1 mutations.
25789959 2015 Changes in tumor necrosis factor-?, heat shock protein 70, malondialdehyde, and superoxide dismutase in patients with different severities of alcoholic fatty liver disease: a prospective observational study.
25573477 2015 Analysis of SOD1 polymorphisms in Polish population with pseudoexfoliation syndrome.
25524953 2015 hSOD1 promotes tau phosphorylation and toxicity in the Drosophila model.
25496420 2015 Local destabilization of the metal-binding region in human copper-zinc superoxide dismutase by remote mutations is a possible determinant for progression of ALS.
25485927 2015 Copper-zinc superoxide dismutase-mediated redox regulation of bortezomib resistance in multiple myeloma.
25463043 2015 Calcium binding to gatekeeper residues flanking aggregation-prone segments underlies non-fibrillar amyloid traits in superoxide dismutase 1 (SOD1).
25440013 2014 rs2070424 of the SOD1 gene is associated with risk of Alzheimer's disease.
25434301 2015 Serum zinc is associated with plasma leptin and Cu-Zn SOD in elite male basketball athletes.
25433341 2015 Insights into the role of the unusual disulfide bond in copper-zinc superoxide dismutase.
25429517 2014 In-cell NMR reveals potential precursor of toxic species from SOD1 fALS mutants.
25377090 2015 Depressed excitability and ion currents linked to slow exocytotic fusion pore in chromaffin cells of the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
25316790 2014 Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes.
25306968 2015 Mechanism for transforming cytosolic SOD1 into integral membrane proteins of organelles by ALS-causing mutations.
25305079 2015 Direct and indirect mechanisms for wild-type SOD1 to enhance the toxicity of mutant SOD1 in bigenic transgenic mice.
25283363 2015 Association of Superoxide dismutases (SOD1 and SOD2) and Glutathione peroxidase 1 (GPx1) gene polymorphisms with type 2 diabetes mellitus.
25237191 2014 Oxidation of the tryptophan 32 residue of human superoxide dismutase 1 caused by its bicarbonate-dependent peroxidase activity triggers the non-amyloid aggregation of the enzyme.
25220364 2014 Polyanion binding accelerates the formation of stable and low-toxic aggregates of ALS-linked SOD1 mutant A4V.
25175826 2014 Changes in skeletal muscle iron metabolism outpace amyotrophic lateral sclerosis onset in transgenic rats bearing the G93A hmSOD1 gene mutation.
25167838 2014 SIRT1 overexpression ameliorates a mouse model of SOD1-linked amyotrophic lateral sclerosis via HSF1/HSP70i chaperone system.
25164820 2014 Identification of a misfolded region in superoxide dismutase 1 that is exposed in amyotrophic lateral sclerosis.
25149881 2014 50-bp Ins/Del polymorphism of SOD1 is associated with increased risk of cardiovascular disease.
25096579 2014 Altered thiol chemistry in human amyotrophic lateral sclerosis-linked mutants of superoxide dismutase 1.
25093813 2014 Adenosine A2A receptors activation facilitates neuromuscular transmission in the pre-symptomatic phase of the SOD1(G93A) ALS mice, but not in the symptomatic phase.
25054289 2014 Mitochondria-targeted catalase reverts the neurotoxicity of hSOD1G?³A astrocytes without extending the survival of ALS-linked mutant hSOD1 mice.
24971881 2014 SUMO3 modification accelerates the aggregation of ALS-linked SOD1 mutants.
24962940 2014 An investigation into the serum thioredoxin, superoxide dismutase, malondialdehyde, and advanced oxidation protein products in patients with breast cancer.
24946209 2014 Alteration of copper-zinc superoxide dismutase 1 expression by influenza A virus is correlated with virus replication.
24936435 2014 SOD1 oxidation and formation of soluble aggregates in yeast: relevance to sporadic ALS development.
24918640 2014 Defining peripheral nervous system dysfunction in the SOD-1G93A transgenic rat model of amyotrophic lateral sclerosis.
24838187 2014 Slowly progressing lower motor neuron disease caused by a novel duplication mutation in exon 1 of the SOD1 gene.
24821155 2014 Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy.
24732311 2014 Expression of mitochondrial superoxide dismutase in polymorphonuclear leukocytes from patients with type 1 diabetes with and without microvascular complications.
24704493 2014 Modeling ALS with iPSCs reveals that mutant SOD1 misregulates neurofilament balance in motor neurons.
24704492 2014 Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
24692554 2014 Dimerization, oligomerization, and aggregation of human amyotrophic lateral sclerosis copper/zinc superoxide dismutase 1 protein mutant forms in live cells.
24634124 2014 Evaluation of glutathione peroxidase and superoxide dismutase enzyme polymorphisms in celiac disease patients.
24611504 2014 Multiple system involvement in a Japanese patient with a V31A mutation in the SOD1 gene.
24591457 2014 Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
24579824 2014 Human SOD1-G93A specific distribution evidenced in murine brain of a transgenic model for amyotrophic lateral sclerosis by MALDI imaging mass spectrometry.
24577199 2014 Species-dependent neuropathology in transgenic SOD1 pigs.
24567322 2014 DJ-1 is a copper chaperone acting on SOD1 activation.
24550511 2014 Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms.
24547927 2015 Analysis of the SOD1 Gene in Keratoconus Patients from Saudi Arabia.
24501372 2014 Abnormal intracellular calcium signaling and SNARE-dependent exocytosis contributes to SOD1G93A astrocyte-mediated toxicity in amyotrophic lateral sclerosis.
24496176 2014 T?-weighted MRI detects presymptomatic pathology in the SOD1 mouse model of ALS.
24493373 2014 Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population.
24488615 2014 Changes in motor unit properties in SOD1 (G93A) rats.
24472010 2014 Computing stability effects of mutations in human superoxide dismutase 1.
24450587 2014 Dysregulation of the proteasome increases the toxicity of ALS-linked mutant SOD1.
24448804 2014 SOD2 to SOD1 switch in breast cancer.
24442855 2014 Early gene expression changes in skeletal muscle from SOD1(G93A) amyotrophic lateral sclerosis animal model.
24439480 2014 Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis.
24390572 2014 Oxidative stress and autophagic alteration in brainstem of SOD1-G93A mouse model of ALS.
24369116 2014 Comparative structural and conformational studies on H43R and W32F mutants of copper-zinc superoxide dismutase by molecular dynamics simulation.
24363822 2013 Superoxide dismutase1 levels in North Indian population with age-related macular degeneration.
24359187 2014 Hypoxia causes autophagic stress and derangement of metabolic adaptation in a cell model of amyotrophic lateral sclerosis.
24344300 2014 Aggregation-triggering segments of SOD1 fibril formation support a common pathway for familial and sporadic ALS.
24325798 2014 Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.
24320678 2015 Study of mutation and misfolding of Cu-Zn SOD1 protein.
24312616 2013 Structural and functional analysis of human SOD1 in amyotrophic lateral sclerosis.
24292713 2014 Targeting SOD1 reduces experimental non–small-cell lung cancer.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24269091 2014 Mitochondrial defects in transgenic mice expressing Cu,Zn superoxide dismutase mutations: the role of copper chaperone for SOD1.
24256636 2013 Heat shock factor 1 over-expression protects against exposure of hydrophobic residues on mutant SOD1 and early mortality in a mouse model of amyotrophic lateral sclerosis.
24253732 2013 Glutathionylation potentiates benign superoxide dismutase 1 variants to the toxic forms associated with amyotrophic lateral sclerosis.
24234043 2014 Cystatin B and SOD1: protein–protein interaction and possible relation to neurodegeneration.
24184207 2014 T cell activation induces CuZn superoxide dismutase (SOD)-1 intracellular re-localization, production and secretion.
24155874 2013 Altered intracellular localization of SOD1 in leukocytes from patients with sporadic amyotrophic lateral sclerosis.
24155217 2014 Rare single nucleotide polymorphisms in the regulatory regions of the superoxide dismutase genes in autism spectrum disorder.
24146173 2013 Polymorphisms in the superoxidase dismutase genes reveal no association with human longevity in Germans: a case-control association study.
24143259 2013 Disulfide scrambling in superoxide dismutase 1 reduces its cytotoxic effect in cultured cells and promotes protein aggregation.
24140062 2013 SIRT5 desuccinylates and activates SOD1 to eliminate ROS.
24134191 2014 Mutant SOD1 inhibits ER-Golgi transport in amyotrophic lateral sclerosis.
24126158 2014 Human superoxide dismutase 1 overexpression in motor neurons of Caenorhabditis elegans causes axon guidance defect and neurodegeneration.
24099280 2015 Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.
24094577 2014 Identification of a novel missense (C7W) mutation of SOD1 in a large familial amyotrophic lateral sclerosis pedigree.
24091828 2014 Potential effect of S-nitrosylated protein disulfide isomerase on mutant SOD1 aggregation and neuronal cell death in amyotrophic lateral sclerosis.
24076220 2013 SOD1 as a molecular switch for initiating the homeostatic ER stress response under zinc deficiency.
24065725 2013 Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis.
24040091 2013 Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset.
24038157 2013 Antioxidant and vitamin E transport genes and risk of high-grade prostate cancer and prostate cancer recurrence.
24032979 2014 Distinctive features of the D101N and D101G variants of superoxide dismutase 1; two mutations that produce rapidly progressing motor neuron disease.
24026444 2013 The role of solvent exclusion in the interaction between D124 and the metal site in SOD1: implications for ALS.
24024135 2013 Hydrogen peroxide induce modifications of human extracellular superoxide dismutase that results in enzyme inhibition.
24023695 2013 Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
24002644 2013 Synthetic lethal targeting of superoxide dismutase 1 selectively kills RAD54B-deficient colorectal cancer cells.
23969235 2013 Posttranscriptional regulation of SOD1 gene expression under oxidative stress: Potential role of ELAV proteins in sporadic ALS.
23954173 2014 Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.
23927036 2013 Post-translational modification by cysteine protects Cu/Zn-superoxide dismutase from oxidative damage.
23919400 2013 Structural consequences of cysteinylation of Cu/Zn-superoxide dismutase.
23911407 2013 Loss of plasma membrane integrity, complement response and formation of reactive oxygen species during early myocardial ischemia/reperfusion.
23898858 2013 Recurrent K3E mutation in Cu/Zn superoxide dismutase gene associated with amyotrophic lateral sclerosis.
23889606 2013 New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient.
23875973 2013 Protective reactivity and alteration of the brain tissue in alcoholics evidenced by SOD1, MMP9 immunohistochemistry, and electron microscopy.
23861388 2013 Calcium ions promote superoxide dismutase 1 (SOD1) aggregation into non-fibrillar amyloid: a link to toxic effects of calcium overload in amyotrophic lateral sclerosis (ALS)?
23853506 2013 An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member.
23840839 2013 The effect of SOD1 mutation on cellular bioenergetic profile and viability in response to oxidative stress and influence of mutation-type.
23837654 2013 Pro-oxidant copper-binding mode of the Apo form of ALS-linked SOD1 mutant H43R denatured at physiological temperature.
23831581 2013 Intracellular seeded aggregation of mutant Cu,Zn-superoxide dismutase associated with amyotrophic lateral sclerosis.
23828685 Total antioxidant status value and superoxide dismutase activity in human colorectal cancer tissue depending on the stage of the disease: a pilot study.
23795822 2014 Regulation of CuZnSOD and its redox signaling potential: implications for amyotrophic lateral sclerosis.
23792044 2013 Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.
23784844 2013 Early steps in thermal unfolding of superoxide dismutase 1 are similar to the conformational changes associated with the ALS-associated A4V mutation.
23781296 2013 Serum antioxidative enzymes levels and oxidative stress products in age-related cataract patients.
23781106 2013 Structural similarity of wild-type and ALS-mutant superoxide dismutase-1 fibrils using limited proteolysis and atomic force microscopy.
23765103 2013 Extracellular wildtype and mutant SOD1 induces ER-Golgi pathology characteristic of amyotrophic lateral sclerosis in neuronal cells.
23761047 2014 Mitochondrial complex enzyme activities and cytochrome C expression changes in multiple sclerosis.
23760509 2013 Palmitoylation of superoxide dismutase 1 (SOD1) is increased for familial amyotrophic lateral sclerosis-linked SOD1 mutants.
23744890 2013 Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing.
23720777 2013 Accelerated development of pulmonary fibrosis via Cu,Zn-superoxide dismutase-induced alternative activation of macrophages.
23665075 2013 Differential regulation of the glutamate transporter variants GLT-1a and GLT-1b in the cortex and spinal cord of transgenic rats expressing hSOD1(G93A).
23638916 2014 Genetic variation of superoxide dismutases in patients with primary open-angle glaucoma.
23625804 2013 Mechanistic aspects of hSOD1 maturation from the solution structure of Cu(I) -loaded hCCS domain 1 and analysis of disulfide-free hSOD1 mutants.
23612299 2013 Ligand binding and aggregation of pathogenic SOD1.
23597337 2013 Enhanced optomotor efficiency by expression of the human gene superoxide dismutase primarily in Drosophila motorneurons.
23592792 2013 Mutant copper-zinc superoxide dismutase (SOD1) induces protein secretion pathway alterations and exosome release in astrocytes: implications for disease spreading and motor neuron pathology in amyotrophic lateral sclerosis.
23583391 2013 Characterization and Hsp104-induced artificial clearance of familial ALS-related SOD1 aggregates.
23578819 2013 Overexpression of human mutated G93A SOD1 changes dynamics of the ER mitochondria calcium cycle specifically in mouse embryonic motor neurons.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23496883 2013 The involvement of GSH in the activation of human Sod1 linked to FALS in chronologically aged yeast cells.
23489186 2013 Pheochromocytoma and markers of oxidative stress.
23486940 2013 Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosis.
23455544 2013 Atomic-resolution monitoring of protein maturation in live human cells by NMR.
23431167 2013 Global structural motions from the strain of a single hydrogen bond.
23431152 2013 SOD1 exhibits allosteric frustration to facilitate metal binding affinity.
23418589 2013 Absence of Nrf2 or its selective overexpression in neurons and muscle does not affect survival in ALS-linked mutant hSOD1 mouse models.
23414135 2013 Apparent anticipation in SOD1 familial amyotrophic lateral sclerosis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23339308 2012 SOD1 aggregation and ALS: role of metallation states and disulfide status.
23332757 2013 SOD1 integrates signals from oxygen and glucose to repress respiration.
23303748 2013 Characterization of superoxide dismutase 1 (SOD-1) by electrospray ionization-ion mobility mass spectrometry.
23298163 2013 Gene expression profile of SOD1-G93A mouse spinal cord, blood and muscle.
23297859 2013 Non-genomic, direct modulatory effect of 17?-estradiol, progesterone and their synthetic derivatives on the activity of human erythrocyte CuZn superoxide dismutase.
23291526 2013 Mechanical probes of SOD1 predict systematic trends in metal and dimer affinity of ALS-associated mutants.
23289810 2013 Superoxide dismutase gene polymorphisms in patients with age-related cataract.
23286750 2013 Familial amyotrophic lateral sclerosis in Alberta, Canada.
23264618 2013 Disulfide scrambling describes the oligomer formation of superoxide dismutase (SOD1) proteins in the familial form of amyotrophic lateral sclerosis.
23196439 2012 [Clinical genetics of amyotrophic lateral sclerosis in Japan: an update].
23182243 2013 Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene.
23147550 2013 SOD1 in cerebral spinal fluid as a pharmacodynamic marker for antisense oligonucleotide therapy.
23147503 2012 Decreased mRNA expression of PGC-1? and PGC-1?-regulated factors in the SOD1G93A ALS mouse model and in human sporadic ALS.
23147108 2013 Cu-Zn superoxide dismutase activates muscarinic acetylcholine M1 receptor pathway in neuroblastoma cells.
23118898 2012 Role of disulfide cross-linking of mutant SOD1 in the formation of inclusion-body-like structures.
23114721 2013 SOD1 gene transfer into paraventricular nucleus attenuates hypertension and sympathetic activity in spontaneously hypertensive rats.
23076707 2013 Composition of soluble misfolded superoxide dismutase-1 in murine models of amyotrophic lateral sclerosis.
23076148 2012 S100A6 amyloid fibril formation is calcium-modulated and enhances superoxide dismutase-1 (SOD1) aggregation.
23030347 2013 Association of SOD1 and SOD2 single nucleotide polymorphisms with susceptibility to gastric cancer in a Korean population.
23026746 2013 Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.
22999954 2012 Enthalpic barriers dominate the folding and unfolding of the human Cu, Zn superoxide dismutase monomer.
22987392 2012 Changes in the astrocytic aquaporin-4 and inwardly rectifying potassium channel expression in the brain of the amyotrophic lateral sclerosis SOD1(G93A) rat model.
22984565 2012 Structural evidence for a copper-bound carbonate intermediate in the peroxidase and dismutase activities of superoxide dismutase.
22972774 2012 Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.
22970972 2012 Association of polymorphic markers of the catalase and superoxide dismutase genes with type 2 diabetes mellitus.
22967507 2012 Compartmentalization of superoxide dismutase 1 (SOD1G93A) aggregates determines their toxicity.
22958044 2012 Genetic polymorphisms of antioxidant enzymes in preterm infants.
22931816 2012 [Effects of noise exposure level on the relationship between SNPs of SOD1 and the susceptibility to noise-induced hearing loss (NIHL)].
22926189 2013 Cellular toxicity of mutant SOD1 protein is linked to an easily soluble, non-aggregated form in vitro.
22910911 2012 The peroxisome proliferator-activated receptor ? (PPAR?) controls natural protective mechanisms against lipid peroxidation in amyotrophic lateral sclerosis.
22905912 2012 Resveratrol-induced changes of the human adipocyte secretion profile.
22899264 2012 Separation and characterization of superoxide dismutase 1 (SOD-1) from human erythrocytes by capillary electrophoresis time-of-flight mass spectrometry.
22869735 2012 Human superoxide dismutase 1 (hSOD1) maturation through interaction with human copper chaperone for SOD1 (hCCS).
22867017 2013 Disulfide bond as a switch for copper-zinc superoxide dismutase activity in asthma.
22853691 2013 Identification of Tau and SOD1 gene mutation in a small Chinese Han pedigree of adult amyotrophic lateral sclerosis.
22804629 2012 Structural switching of Cu,Zn-superoxide dismutases at loop VI: insights from the crystal structure of 2-mercaptoethanol-modified enzyme.
22797053 2013 Altered in vitro proliferation of mouse SOD1-G93A skeletal muscle satellite cells.
22768276 2012 Huntingtin fragments and SOD1 mutants form soluble oligomers in the cell.
22761419 2012 Ataxin-3 regulates aggresome formation of copper-zinc superoxide dismutase (SOD1) by editing K63-linked polyubiquitin chains.
22735487 2012 Transformation from a neuroprotective to a neurotoxic microglial phenotype in a mouse model of ALS.
22670878 2012 REM behavior disorder associated with familial amyotrophic lateral sclerosis.
22651090 2012 Redox properties of the disulfide bond of human Cu,Zn superoxide dismutase and the effects of human glutaredoxin 1.
22650006 2012 Relation of CuZnSOD activity with renal insufficiency in hypertensive diabetic patients.
22647583 2012 Distinctive clinicopathological features of 2 large families with amyotrophic lateral sclerosis having L106V mutation in SOD1 gene.
22613021 2011 The effects of L-NAME on neuronal NOS and SOD1 expression in the DRG-spinal cord network of axotomised Thy 1.2 eGFP mice.
22609817 2012 Degeneration of axons in spinal white matter in G93A mSOD1 mouse characterized by NFL and ?-internexin immunoreactivity.
22608880 2012 Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects.
22595972 2012 Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.
22595939 2012 Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.
22590985 2012 Serum superoxide dismutase, a potential predictor for radiation pneumonitis following chemoradiotherapy in non-small cell lung cancer patients.
22589106 2012 Coupling of native IEF and extended X-ray absorption fine structure to characterize zinc-binding sites from pI isoforms of SOD1 and A4V pathogenic mutant.
22580443 2012 The relation between keratoconus and plasma levels of MMP-2, zinc, and SOD.
22561328 2012 Oxidative stress and memory decline in adults with Down syndrome: longitudinal study.
22542539 2012 Prolonged survival and milder impairment of motor function in the SOD1 ALS mouse model devoid of fibroblast growth factor 2.
22542526 2012 Early steps in oxidation-induced SOD1 misfolding: implications for non-amyloid protein aggregation in familial ALS.
22496122 2012 Endothelial cell palmitoylproteomic identifies novel lipid-modified targets and potential substrates for protein acyl transferases.
22493728 2012 Aberrant localization of FUS and TDP43 is associated with misfolding of SOD1 in amyotrophic lateral sclerosis.
22492046 2012 Reduced calreticulin levels link endoplasmic reticulum stress and Fas-triggered cell death in motoneurons vulnerable to ALS.
22475618 2012 Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.
22471903 2012 Misfolded SOD1 and ALS: zeroing in on mitochondria.
22438926 2012 Different human copper-zinc superoxide dismutase mutants, SOD1G93A and SOD1H46R, exert distinct harmful effects on gross phenotype in mice.
22431618 2012 Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS.
22424128 2012 Blood pressure measurements in a transgenic SOD1-G93A mouse model of amyotrophic lateral sclerosis.
22416121 2012 An over-oxidized form of superoxide dismutase found in sporadic amyotrophic lateral sclerosis with bulbar onset shares a toxic mechanism with mutant SOD1.
22409359 2012 Marked intrafamilial phenotypic variation in a family with SOD1 C111Y mutation.
22390177 2012 The unfolded protein response in models of human mutant G93A amyotrophic lateral sclerosis.
22357533 2011 [Association between SNPs in SOD1 and noise-induced hearing loss in Chinese Han population].
22343163 2012 A novel exon 3 mutation (P66S) in the SOD1 gene in familial ALS.
22332887 2012 A novel variant of human superoxide dismutase 1 harboring amyotrophic lateral sclerosis-associated and experimental mutations in metal-binding residues and free cysteines lacks toxicity in vivo.
22320662 2012 Cu(I) affinities of the domain 1 and 3 sites in the human metallochaperone for Cu,Zn-superoxide dismutase.
22292847 2012 Founder effect hypothesis of D11Y SOD1 mutation in Italian amyotrophic lateral sclerosis patients.
22292843 2012 SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
22264771 2012 ALS patients with mutations in the SOD1 gene have an unique metabolomic profile in the cerebrospinal fluid compared with ALS patients without mutations.
22249462 2012 Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice.
22219285 2012 Mitochondrial dynamics and bioenergetic dysfunction is associated with synaptic alterations in mutant SOD1 motor neurons.
22214312 2012 Early onset Parkinsonism associated with an intronic SOD1 mutation.
22212531 2012 Correlation between leukocyte membrane lipid peroxidation and expression of Cu/Zn-superoxide dismutase mRNA in hemodialysis patients.
22210350 2012 Local unfolding of Cu, Zn superoxide dismutase monomer determines the morphology of fibrillar aggregates.
22203790 2011 Quercetin protects primary human osteoblasts exposed to cigarette smoke through activation of the antioxidative enzymes HO-1 and SOD-1.
22185396 2012 A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype.
22171159 2011 Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.
22117694 2012 Paradoxical roles of serine racemase and D-serine in the G93A mSOD1 mouse model of amyotrophic lateral sclerosis.
22116045 2012 Nerve excitability changes related to axonal degeneration in amyotrophic lateral sclerosis: Insights from the transgenic SOD1(G127X) mouse model.
22094223 2011 Superoxide dismutase 1 encoding mutations linked to ALS adopts a spectrum of misfolded states.
22089180 2012 Antioxidant enzymes GSR, SOD1, SOD2, and CAT gene variants and bone mineral density values in postmenopausal women: a genetic association analysis.
22088212 2012 Misfolded SOD1 forms high-density molecular complexes with synaptic molecules in mutant SOD1-linked familial amyotrophic lateral sclerosis cases.
22081209 2011 SOD1 and mitochondria in ALS: a dangerous liaison.
22072713 2011 SOD1 (copper/zinc superoxide dismutase) deficiency drives amyloid ? protein oligomerization and memory loss in mouse model of Alzheimer disease.
22049684 2011 [Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis].
22023190 2011 Anti-superoxide dismutase antibodies are associated with survival in patients with sporadic amyotrophic lateral sclerosis.
22005552 2012 Effect of the 50 bp deletion polymorphism in the SOD1 promoter on SOD1 mRNA levels in Italian ALS patients.
21986594 2011 Carbonic anhydrase II autoantibody and oxidative stress in rheumatoid arthritis.
21976959 2011 Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
21969586 2011 Astrocytes carrying the superoxide dismutase 1 (SOD1G93A) mutation induce wild-type motor neuron degeneration in vivo.
21963083 2011 Allelic variations in superoxide dismutase-1 (SOD1) gene are associated with increased risk of diabetic nephropathy in type 1 diabetic subjects.
21943126 2011 A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function.
21940617 2011 Presymptomatic spinal cord neurometabolic findings in SOD1-positive people at risk for familial ALS.
21930926 2011 Intermolecular transmission of superoxide dismutase 1 misfolding in living cells.
21930207 2012 Mutant SOD1 forms ion channel: implications for ALS pathophysiology.
21921984 2011 Genetic polymorphisms of superoxide dismutases, catalase, and glutathione peroxidase in age-related cataract.
21908873 2011 Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis.
21896300 2012 Elevated plasma superoxide dismutase in first-episode and drug naive patients with schizophrenia: inverse association with positive symptoms.
21887272 2011 In-cell NMR in E. coli to monitor maturation steps of hSOD1.
21877919 2012 Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.
21843597 2011 SOD1 overexpression improves features of the oligodendrocyte precursor response in vitro.
21839474 2011 D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.
21832997 2011 Astrocytes from familial and sporadic ALS patients are toxic to motor neurons.
21825243 2011 Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations.
21816178 2011 Sensorimotor and cognitive functions in a SOD1(G37R) transgenic mouse model of amyotrophic lateral sclerosis.
21800301 2011 Differential gene expression in the axotomized facial motor nucleus of presymptomatic SOD1 mice.
21796667 2011 DJ-1 modulates the expression of Cu/Zn-superoxide dismutase-1 through the Erk1/2-Elk1 pathway in neuroprotection.
21780215 2011 Hydrogen-deuterium exchange in vivo to measure turnover of an ALS-associated mutant SOD1 protein in spinal cord of mice.
21760539 2011 Spinal inhibitory interneuron pathology follows motor neuron degeneration independent of glial mutant superoxide dismutase 1 expression in SOD1-ALS mice.
21733494 2011 Evolution of gait abnormalities in SOD1(G93A) transgenic mice.
21700728 2012 ALS patients with SOD1 mutations in Switzerland show very diverse phenotypes and extremely long survival.
21700707 2011 Cutting off functional loops from homodimeric enzyme superoxide dismutase 1 (SOD1) leaves monomeric ?-barrels.
21692800 2011 Biochemical properties and in vivo effects of the SOD1 zinc-binding site mutant (H80G).
21655264 2011 Colocalization of 14-3-3 proteins with SOD1 in Lewy body-like hyaline inclusions in familial amyotrophic lateral sclerosis cases and the animal model.
21651514 2012 Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21624464 2011 Bcl2-A1 interacts with pro-caspase-3: implications for amyotrophic lateral sclerosis.
21620832 2011 Hind limb muscle atrophy precedes cerebral neuronal degeneration in G93A-SOD1 mouse model of amyotrophic lateral sclerosis: a longitudinal MRI study.
21605634 2011 APP/SOD1 overexpressing mice present reduced neuropathic pain sensitivity.
21600285 2011 Decreased glutathione accelerates neurological deficit and mitochondrial pathology in familial ALS-linked hSOD1(G93A) mice model.
21574856 2011 A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis.
21554318 2011 Muscle cells and motoneurons differentially remove mutant SOD1 causing familial amyotrophic lateral sclerosis.
21550164 Oxidative stress status and plasma trace elements in patients with asthma or allergic rhinitis.
21549454 2012 [SOD1-N196 mutation in a family with amyotrophic lateral sclerosis].
21549128 2011 ALS-causing SOD1 mutations promote production of copper-deficient misfolded species.
21515558 2011 Differential corticospinal tract degeneration in homozygous 'D90A' SOD-1 ALS and sporadic ALS.
21506602 2011 Structural instability and Cu-dependent pro-oxidant activity acquired by the apo form of mutant SOD1 associated with amyotrophic lateral sclerosis.
21493711 2011 Proteins that bind to misfolded mutant superoxide dismutase-1 in spinal cords from transgenic amyotrophic lateral sclerosis (ALS) model mice.
21469165 2011 Identification of potential biomarkers for predicting acute dermal irritation by proteomic analysis.
21421868 2011 Retinal ganglion cell loss in superoxide dismutase 1 deficiency.
21413851 2011 Vocal cord paralysis and rapid progressive motor neuron disease by the I113F mutation in SOD1 gene.
21403029 2011 No effect on SOD1 splicing by TARDP or FUS mutations.
21396374 2011 Structural and thermodynamic effects of post-translational modifications in mutant and wild type Cu, Zn superoxide dismutase.
21393238 2011 Mitochondrial Cu,Zn-superoxide dismutase mediates pulmonary fibrosis by augmenting H2O2 generation.
21388680 2011 G37R SOD1 mutant alters mitochondrial complex I activity, Ca(2+) uptake and ATP production.
21354101 2011 Effect of CCS on the accumulation of FALS SOD1 mutant-containing aggregates and on mitochondrial translocation of SOD1 mutants: implication of a free radical hypothesis.
21346313 2011 Prevention of motor neuron degeneration by novel iron chelators in SOD1(G93A) transgenic mice of amyotrophic lateral sclerosis.
21325350 2011 Glutathione peroxidase, superoxide dismutase and catalase genotypes and activities and the progression of chronic kidney disease.
21287393 2011 Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis.
21269460 2011 Initial characterization of the human central proteome.
21257910 2011 Decreased stability and increased formation of soluble aggregates by immature superoxide dismutase do not account for disease severity in ALS.
21252941 2011 BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins.
21247266 2011 A novel L67P SOD1 mutation in an Italian ALS patient.
21239495 2011 Presenilins promote the cellular uptake of copper and zinc and maintain copper chaperone of SOD1-dependent copper/zinc superoxide dismutase activity.
21226712 2011 Misfolded superoxide dismutase-1 in CSF from amyotrophic lateral sclerosis patients.
21220647 2011 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
21210247 2011 Parameters of metabolic syndrome and its relationship with zincemia and activities of superoxide dismutase and glutathione peroxidase in obese women.
21185345 2011 Derlin-1 overexpression ameliorates mutant SOD1-induced endoplasmic reticulum stress by reducing mutant SOD1 accumulation.
21179281 2010 Association of the superoxide dismutase (V16A) and catalase (C262T) genetic polymorphisms with the clinical outcome of patients with acute paraquat intoxication.
21151573 2010 An inducer of VGF protects cells against ER stress-induced cell death and prolongs survival in the mutant SOD1 animal models of familial ALS.
21145892 2011 Relationship between neuropathology and disease progression in the SOD1(G93A) ALS mouse.
21140194 2011 Copper depletion increases the mitochondrial-associated SOD1 in neuronal cells.
21120952 2011 Mutant SOD1 and mitochondrial damage alter expression and splicing of genes controlling neuritogenesis in models of neurodegeneration.
21120636 2011 Phenotypic heterogeneity in a SOD1 G93D Italian ALS family: an example of human model to study a complex disease.
21102999 2010 Characterization of a novel SOD-1(G93A) transgenic mouse line with very decelerated disease development.
21098299 2010 Strategies for stabilizing superoxide dismutase (SOD1), the protein destabilized in the most common form of familial amyotrophic lateral sclerosis.
21084099 2011 FALS with Gly72Ser mutation in SOD1 gene: report of a family including the first autopsy case.
21083503 2011 Effects of whole-body cryotherapy on a total antioxidative status and activities of antioxidative enzymes in blood of depressive multiple sclerosis patients.
21078175 2010 The human G93A-SOD1 mutation in a pre-symptomatic rat model of amyotrophic lateral sclerosis increases the vulnerability to a mild spinal cord compression.
21073275 2011 A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling.
21062492 2010 IL-17A is increased in the serum and in spinal cord CD8 and mast cells of ALS patients.
21056687 2011 Neuronal nitric oxide synthase interacts with Sp1 through the PDZ domain inhibiting Sp1-mediated copper-zinc superoxide dismutase expression.
20953194 2010 Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS.
20933032 2010 TDP-43 physically interacts with amyotrophic lateral sclerosis-linked mutant CuZn superoxide dismutase.
20931825 2010 [Anxiety, depression and polymorphism of the gene encoding superoxide dismutase in patients with chronic obstructive pulmonary disease].
20931343 2011 Superoxide dismutase type 1 in monocytes of chronic kidney disease patients.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20872977 2010 Mn-SOD and CuZn-SOD polymorphisms and interactions with risk factors in gastric cancer.
20871097 2010 An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1.
20851292 2010 Polymorphisms of superoxide dismutase, glutathione peroxidase and catalase genes in patients with post-transplant diabetes mellitus.
20838240 2010 Downregulation of the potassium chloride cotransporter KCC2 in vulnerable motoneurons in the SOD1-G93A mouse model of amyotrophic lateral sclerosis.
20837142 2011 Lipid molecules induce the cytotoxic aggregation of Cu/Zn superoxide dismutase with structurally disordered regions.
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20226522 2010 Effects of labor on placental expression of superoxide dismutases in preeclampsia.
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