Property Summary

NCBI Gene PubMed Count 171
PubMed Score 450.76
PubTator Score 300.79

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (10)

MLP Assay (8)

AID Type Active / Inconclusive / Inactive Description
1458 confirmatory 5854 / 9724 / 193105 qHTS Assay for Enhancers of SMN2 Splice Variant Expression
1474 summary 17 / 6 / 15 Quantitative High-Throughput Screen for Enhancers of SMN2 Splice Variant Expression: Summary
1739 confirmatory 13 / 19 / 56 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression
1740 confirmatory 8 / 12 / 63 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression
2513 confirmatory 1 / 6 / 22 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression for Probe SAR
2514 confirmatory 16 / 4 / 9 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression for Probe SAR
488821 confirmatory 30 / 31 / 73 Counterscreen Assay for Enhancers of SMN2 Splice Variant Expression: Modulation of SMN1 Expression for Further Probe SAR
488832 confirmatory 78 / 25 / 31 Confirmation Concentration-Response Assay for Enhancers of SMN2 Splice Variant Expression for Further Probe SAR

Gene RIF (112)

PMID Text
27030765 This study demonstrated that Deficiency of the Survival of SMN2 Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons
26739529 Thus, we can conclude that SMN2 methylation may regulate the SMA disease phenotype by modulating its transcription.
26665550 In the Serbian patients with spinal muscular atrophy, a higher SMN2 gene copy number correlated with less severe disease phenotype.
26468953 Loss of SMN2 expression is associated with Spinal muscular atrophy.
26311540 Inverse correlation was observed between SMN2, SERF1A and NAIP copy number polymorphism and spinal muscular atrophy type.
25888055 The copy numbers and gene structures of SMN2 genes were different in Chinese spinal muscular atrophy patients and healthy controls.
25859009 Smn complex deficiency caused constipation, delayed gastric emptying, slow intestinal transit and reduced colonic motility.
25781985 results indicate that high expression level of Tra2-beta1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
25561692 Missense point mutations in the C-terminal domain of SMN2 leads to loss of small nuclear ribonucleoprotein assembly.
25506695 Depletion of two of the most potent inhibitors of SMP2 exon 7 inclusion, SRSF2 or SRSF3, in cell lines derived from SMA patients, increased SMN2 exon 7 inclusion and SMN protein level.
25330799 Results revealed that SMN2 and NAIP copy numbers significantly influenced the age at onset, risk of death, and life expectancy in the spinal muscular atrophy patients and that the effect of SMN2 was more significant
25263560 A targeted bifunctional oligonucleotide enhancer of splicing (TOES) anneals to SMN2 exon 7 and carries an exonic splicing enhancer (ESE) sequence.
24909772 successfully determined various gene dosages of SMN1 and SMN2 genes in homologous or heterologous subjects. By using the UFTPL-CE method, the SMN1 and SMN2 genes were fully resolved with the resolution of 2.16+/-0.37 (n=3
24806302 The SMN[DELTA]7 mouse model to examine the contribution of astroglial and microglial cells to SMA spinal cord pathology, including degenerative changes in MN synaptic inputs. In addition,show that nNOS is upregulated.
24616638 3' Splice site sequences of spinal muscular atrophy related SMN2 pre-mRNA include enhancers for nearby exons.
24533984 promotes U2AF65 recruitment on the flanking intron of exon 7. We conclude that hnRNP M promotes exon 7 inclusion of SMN1 and SMN2 pre-mRNA through targeting an enhancer on exon 7 through recruiting U2AF65.
24359787 SMN2 copy number is not always associated with clinical severity of SMA patients, especially SMA patients retaining one SMN1 allele.
24317636 Notably, masking of both ISS-N1 and ex8 3'ss induced the highest fold increase of full-length SMN2 transcript and protein
24014320 SMN2 splicing was predominantly inhibited in the Central Nervous System at the adult stages, whereas in severe- SMA mice SMN2 mis-splicing is ubiquitous and begins embryonically.
23477310 There were no significant differences in the SMN2 copy numbers between progressive muscular atrophy patients and controls.
23315303 [review] A second highly homologous copy of SMN1, named SMN2, differs by only a single translationally silent base change within exon 7.
23185376 analysis of a Batten disease cell line that lacks functional SMN2 reveals details of pre-mRNA splicing of SMN1
22884440 SMN2 is an important modifier for spinal muscular atrophy, and SMN2 copy number should be considered in the prenatal diagnosis situation
22763238 Hypoxia treatment in human cell lines increased SMN2 exon 7 skipping and reduced SMN protein levels.
22750651 This study developed a score (CD score) derived from body weight analysis that defines disease stage independent of age and predicts death in the SMNDelta7 mouse.
22607171 several conserved SMN residues, including the sites of two SMA patient mutations, are not required for binding to Gemin2. Instead, they form a conserved SMN/Gemin2 surface that may be functionally important for snRNP assembly.
22558076 SMN2 copy number and levels of full-length SMN2 transcripts correlated with Spinal Muscular Atrophy type.
22274580 SMN2 gene copy number might have different effects on ALS progression in disparate human populations.
22187232 The homozygous SMN2 deletion (2 : 0) was statistically more frequent and associated with earlier onset age and severity of illness in Korean amyotrophic lateral sclerosis patients.
22085534 analysis of SMN1 and SMN2 copy numbers in spinal muscular atrophy by real time PCR
22082206 SMN2 copy number in spinal muscular atrophy fetuses is relevant for the development of congenital heart defects and increased nuchal translucency values.
21979052 comparison of systemic versus CNS restoration of SMN in a severe mouse model
21925145 reduction of individual HDAC proteins was sufficient to increase SMN2 protein levels in a transgenic reporter system.
21821450 There is a close relationship between SMN2, NAIP and H4F5 gene copy number and spinal muscular atrophy disease severity
21762474 Comparison of the SMN2 copy number and clinical features revealed a significant correlation between mild clinical phenotype (SMA type III) and presence of four copies of the SMN2 gene.
21705024 Increased SMN1 gene loci are significantly associated with decreased SMN2 copies in a normal Chinese population, demonstrating that SMN1 and SMN2 loci are interchangeable between populations.
21548796 Three PCR methods complement each other in estimating the SMN2 copy number in most cases.
21189287 TIA1 and TIAR proteins are intron-associated positive regulators of SMN2 exon 7 splicing.
21120954 SMN2 3' splice site motif functions as a crucial hnRNP A1 binding exonic splicing silencer(ESS), which inhibits inclusion of SMN1/2 exon 7 and is antagonized by the SMN1 exonic splicing enhancer(ESE), but not by the inactive SMN2 sequence.
20947812 Homozygous deletion of SMN2 may be specifically related to lower motor neuron disease, despite the small number of subjects.
20947812 Observational study of gene-disease association. (HuGE Navigator)
20884664 SMN protein abundance affects the splicing of SMN2 exon 7, revealing a feedback loop inSMN expression.
20826664 This study provided conclusive evidence that a principal cellular site of action of the SMN protein in determining the SMA phenotype is the motor neuron.
20739549 SMN2 gene expression is enhanced following N-methylaspartate (NMDA) receptor activation in transgenic mice with severe spinal muscular atrophy.
20659551 Data show that rapid quantification of SMN1/SMN2 copy numbers can improve clinical diagnosis of SMA patients and genetic screening of SMA carriers.
20577007 The c.859G>C variant is a milder SMN2 allele and predict a direct correlation between SMN activity and phenotypic severity.
20563565 CE separation allowed differentiation of all copy ratios of SMN1 to SMN2 in exons 7 and 8 among 23 SMA patients, 45 carriers, and 144 normal subjects
20515750 Studies indicate that corrective splicing of the SMN2 gene would restore SMN function.
20442745 Observational study of genotype prevalence and healthcare-related. (HuGE Navigator)
20197730 64% of the individuals had 2 copies of Survival of Motor Neuron 2 Protein, but 36% individuals had between 0, 1, or 3 copies of the gene.
20197730 Observational study of genotype prevalence. (HuGE Navigator)
20186123 In vivo splicing assays showed that Sam68 triggers SMN2 exon-7 skipping.
19953646 The SMN2 variant reduces clinical severity of spinal muscular atrophy because it improves splicing of exon 7. inclusion correlates with an attenuated form of the disease. Thus, our
19922137 Results suggest that abnormal SMN1 copy numbers significantly increase the risk of ALS, but could find no role of the SMN2 gene in ALS.
19760790 Patients with 3 copies of SMN2 had an earlier age of onset and lower spinal muscular atrophy functional rating scale scores and were more likely to be non-ambulatory
19716110 This study demonstrates that the c.859G>C substitution is a positive modifier of the Spinal muscular atrophy (SMA) phenotype and that not all SMN2 genes are equivalent.
19648294 Demonstration of SMN protein regulation through the p38 pathway and the role of HuR in this modulation may help in the identification and characterization of p38 pathway activators as potential therapeutic compounds for the treatment of SMA.
19628962 anti-hnRNP C1/C2 antibody hampered splicing of SMN1 exon 7, but did not affect splicing of SMN2 exon 7
19603064 SMN2-full length dosage in leukocytes can be considered a reliable biomarker and can provide the rationale for SMN dosage in clinical trials.
19397406 Evaluation of gene deletion of SMN2 in the fetus and outcome of the pregnancy are reported.
19329542 SMN(A111G) mutant is capable of restoring snRNP assembly and rescue mice with spinal muscular atrophy.
19287802 higher number of SMN2 copies makes the clinical symptoms more benign, and the NAIP gene deletion is associated with a more severe phenotype
19271042 The most frequent mutation is the biallelic deletion of exon 7 of the SMN1 gene. In SMA, SMN2 cannot compensate for the loss of SMN1, due to the exclusion of exon 7.
19271042 Observational study of gene-disease association. (HuGE Navigator)
19244360 Study reports that C to T transition located in exon 7 in SMN2 compared to SMN1 results in increased uv light-mediated crosslinking of the splicing factor U2AF65 with the 3' splice site of SMN1 intron 6 in HeLa nuclear extract.
19154529 Observational study of gene-disease association. (HuGE Navigator)
19134255 Observational study of gene-disease association. (HuGE Navigator)
18971205 CpG methylation of smn2 correlates with the severity of spinal muscular atrophy disease.
18941511 reducing the competition between endogenous splices sites enhanced the efficiency of trans-splicing
18842367 Data show that SMN2 copy number predicts disease severity in spinal muscular atrophy.
18842367 Observational study of gene-disease association. (HuGE Navigator)
18794368 Data demonstrate that hnRNP Q is a splicing modulator of SMN2, further underscoring the potential of hnRNP Q as a therapeutic target for spinal muscular atrophy.
18703504 TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing
18703124 Findings indicate close structural and functional similarities between fsmn and human SMN2 protein.
18662980 SMN2 deficiency is associated in abnormal cardiogenesis.
18546169 Observational study of genetic testing. (HuGE Navigator)
18492800 Insufficient SMN2 protein arrests the post-natal development of the neuromuscular junction in spinal muscular atrophy patients.
17924536 Our finding that EIPA, an inhibitor of the Na+/H+ exchanger, can increase SMN protein expression in SMA cells provides a new direction for the development of drugs for SMA treatment.
17884807 SMN2 exon 7 splicing is repressed by an hnRNPA1-dependent exonic splicing silencer.
17850955 No differences were found when comparing the SMN1 and SMN2 copy number distributions of the healthy population and HirD patients, and they do not therefore appear to be a susceptibility factor.
17761657 SMN transcript instability does not play a role in the disease mechanism, suggesting that therapeutic modulation of messenger RNA degradation would not target a molecular defect in patients with spinal muscular atrophy.
17592254 SMN2 holds the promise for cure of SMA if skipping of exon 7 during pre-mRNA splicing of SMN2 could be prevented
17585203 adenosine located 22 nucleotides upstream of exon 7is the major base pair used in splicing of intron 6
17505471 optimized this strategy to the point that virtually all SMN2 pre-mRNA becomes correctly spliced
17475491 results illustrate that an increased SMN2 gene copy number is associated with a milder SMA phenotype
17407069 Findings suggest that the severity of SMA patients depend on the change of the SMN2 copy numbers.
17307868 A single base change in intron 7 creates a high-affinity hnRNP A1 binding site, forming an exonic splicing silencer, leading to the exclusion of exon 7 and spinal muscular atrophy.
17250497 Observational study of gene-disease association. (HuGE Navigator)
16931506 Observational study of gene-disease association. (HuGE Navigator)
16931506 Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis; There was no modulator effect of the SMN2 gene.
16845275 Observational study of genetic testing. (HuGE Navigator)
16481599 mRNA and protein levels can be measured in the blood and used during clinical trials in spinal muscular atrophy.
16449646 In spinal muscular atrophy (SMA), SMN2 is not able to compensate for the loss of SMN1 due to exclusion of exon 7. Here we describe a novel inhibitory element located immediately downstream of the 5' splice site in intron 7.
16439605 Observational study of genetic testing. (HuGE Navigator)
16093455 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15944201 identify synthetic compounds that increase the total amount of full-length SMN messenger RNA and protein arising from the SMN2 gene, thereby suppressing the deleterious effects of losing SMN1
15852397 as SMN2 copy number increases, so does functional status in spinal muscular atrophy
15790598 Aminoglycosides were found to restore detectable levels of SMN2 protein in fibroblasts of spinal muscular atrophy patients.
15772088 Increasing SMN2 gene expression may be an effective strategy for the treatment of spinal muscular atrophy.
15305106 The SMN2 gene copy number is more critical in determining the severity of the Spinal Muscular Atrophy Type III compared to the NAIP genotype.
14766219 exon usage is regulated by the extended inhibitory context at the 5' end of exon 7 in SMN2 protein in spinal muscular atrophy
12915451 Valproic acid increases SMN2 protein level and has potential therapy for spinal muscular atrophy.
12833158 A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.
12642665 Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates gene expression in fibroblasts of spinal muscular atrophy patients.
12370479 Absence of SMN2 may be a susceptibility factor for developing multifocal motor neuropathy.
11993528 SMN2 deletions could act as a susceptibility factor for sporadic lower motor neuron disease in adults
11925564 Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
11875052 SMN2 is present in all SMA patients; it lacks SMN exon 7. A single non-polymorphic nucleotide difference is responsible for the alternative splicing patterns.
11839954 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11839954 Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
11835381 Observational study of gene-disease association. (HuGE Navigator)
11791208 quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

AA Sequence

MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDICETSGKPKTTP      1 - 70
KRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKRETCVVVYTGYGNREEQNLSD     71 - 140
LLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKSDNIKPKSAPWNSFLPPPPPMPGPRLGPGKP    141 - 210
GLKFNGPPPPPPPPPPHLLSCWLPPFPSGPPIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGF    211 - 280
RQNQKEGRCSHSLN                                                            281 - 294
//

Text Mined References (192)

PMID Year Title
27030765 2016 Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons.
26739529 2016 Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.
26700805 2016 SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.
26665550 2015 Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.
26468953 2015 Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls.
26311540 2015 Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.
25888055 2015 Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.
25859009 2015 SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.
25781985 2015 High expression level of Tra2-?1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA mice.
25561692 2015 The SMN structure reveals its crucial role in snRNP assembly.
25506695 2014 Targeting SR proteins improves SMN expression in spinal muscular atrophy cells.
25416956 2014 A proteome-scale map of the human interactome network.
25330799 2015 Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort.
25263560 2014 A targeted oligonucleotide enhancer of SMN2 exon 7 splicing forms competing quadruplex and protein complexes in functional conditions.
24909772 2014 Universal fluorescent tri-probe ligation equipped with capillary electrophoresis for targeting SMN1 and SMN2 genes in diagnosis of spinal muscular atrophy.
24806302 2014 Mechanisms involved in spinal cord central synapse loss in a mouse model of spinal muscular atrophy.
24616638 2014 3' Splice site sequences of spinal muscular atrophy related SMN2 pre-mRNA include enhancers for nearby exons.
24533984 2014 hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7.
24359787 2014 Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.
24317636 2014 Dual masking of specific negative splicing regulatory elements resulted in maximal exon 7 inclusion of SMN2 gene.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24014320 2013 Pathological impact of SMN2 mis-splicing in adult SMA mice.
23477310 2013 SMN1 gene duplications are more frequent in patients with progressive muscular atrophy.
23315303 2013 Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23185376 2012 A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.
23063131 2012 An SMN-dependent U12 splicing event essential for motor circuit function.
22884440 2012 Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22763238 2012 Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.
22750651 2012 Prediction of death in the SMN?7 mouse model of spinal muscular atrophy: insight into disease stage and progression.
22607171 2012 Solution structure of the core SMN-Gemin2 complex.
22558076 2012 Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study.
22365833 2012 Dynamic protein-protein interaction wiring of the human spliceosome.
22274580 2012 Homozygous SMN2 deletion is a protective factor in the Swedish ALS population.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22187232 2012 Homozygous SMN2 deletion is a major risk factor among twenty-five Korean sporadic amyotrophic lateral sclerosis patients.
22101937 2011 Structural basis for dimethylarginine recognition by the Tudor domains of human SMN and SPF30 proteins.
22085534 2012 Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers.
22082206 2012 Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number.
21979052 2011 Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model.
21925145 2011 Differential regulation of the SMN2 gene by individual HDAC proteins.
21900206 2011 A directed protein interaction network for investigating intracellular signal transduction.
21821450 2012 Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.
21816274 2011 Structure of a key intermediate of the SMN complex reveals Gemin2's crucial function in snRNP assembly.
21762474 2011 Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.
21705024 2011 Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population.
21700224 2011 Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.
21609790 2011 Identification of the phosphorylation sites in the survival motor neuron protein by protein kinase A.
21548796 2011 Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
21516116 2011 Next-generation sequencing to generate interactome datasets.
21496457 2011 Stabilization of the survival motor neuron protein by ASK1.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21189287 2011 TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy.
21120954 2011 SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.
20947812 2010 Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.
20884664 2010 A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.
20826664 2010 Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene.
20739549 2010 In vivo NMDA receptor activation accelerates motor unit maturation, protects spinal motor neurons, and enhances SMN2 gene expression in severe spinal muscular atrophy mice.
20696395 2010 Conserved beta-hairpin recognition by the GYF domains of Smy2 and GIGYF2 in mRNA surveillance and vesicular transport complexes.
20659551 2010 Quick MLPA test for quantification of SMN1 and SMN2 copy numbers.
20577007 2010 The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
20563565 2010 Universal fluorescent multiplex PCR and capillary electrophoresis for evaluation of gene conversion between SMN1 and SMN2 in spinal muscular atrophy.
20515750 2010 Splicing regulation of the survival motor neuron genes and implications for treatment of spinal muscular atrophy.
20442745 2010 Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.
20197730 2010 Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification.
20186123 2010 The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19953646 2010 A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
19928837 2010 The SMN interactome includes Myb-binding protein 1a.
19922137 The importance of the SMN genes in the genetics of sporadic ALS.
19760790 2009 An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
19716110 2009 A positive modifier of spinal muscular atrophy in the SMN2 gene.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19648294 2009 p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR.
19628962 2009 HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1.
19603064 2010 SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR.
19515850 2009 Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19397406 2009 Evaluation of the SMN and NAIP genes in a family: homozygous deletion of the SMN2 gene in the fetus and outcome of the pregnancy.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19329542 2009 A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice.
19287802 2009 Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
19271042 2009 Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.
19244360 2009 Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP.
19154529 2009 A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.
19134255 2008 [Molecular analysis of survival motor neuron gene in 338 suspicious children patients with spinal muscular atrophy].
18984161 2008 An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs.
18971205 2009 Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition.
18941511 2008 Development of a single vector system that enhances trans-splicing of SMN2 transcripts.
18842367 2009 Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.
18794368 2008 The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene.
18703504 2008 TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing.
18703124 2008 Fugu rubripes and human survival motor neuron genes: structural and functional similarities in comparative genome studies.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18662980 2008 Congenital heart disease is a feature of severe infantile spinal muscular atrophy.
18546169 2008 Quantification of SMN1 and SMN2 genes by capillary electrophoresis for diagnosis of spinal muscular atrophy.
18492800 2008 Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.
18093976 2008 In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein.
17924536 2008 5-(N-ethyl-N-isopropyl)-amiloride enhances SMN2 exon 7 inclusion and protein expression in spinal muscular atrophy cells.
17884807 2007 hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing.
17850955 2007 Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients.
17761657 2007 SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?
17719568 2007 Subtractive hybridisation screen identifies genes regulated by glucose deprivation in human neuroblastoma cells.
17592254 Evolving concepts on human SMN pre-mRNA splicing.
17585203 Spinal muscular atrophy: position and functional importance of the branch site preceding SMN exon 7.
17505471 2007 Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence.
17487921 2007 Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.
17475491 2007 Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy.
17407069 2007 [The study of the correlation between the clinical phenotype of spinal muscular atrophy and SMN2 gene copy number].
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17307868 2007 An intronic element contributes to splicing repression in spinal muscular atrophy.
17250497 2007 C117T variant in the SMN1 gene found in the Japanese population.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17068332 2006 Deficiency of the zinc finger protein ZPR1 causes defects in transcription and cell cycle progression.
17049859 2006 Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.
17023415 2006 Gemin8 is required for the architecture and function of the survival motor neuron complex.
16931506 2006 SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.
16845275 2006 A feasibility study for the newborn screening of spinal muscular atrophy.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
16481599 2006 SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials.
16449646 2006 Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron.
16439605 2006 Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16093455 2005 SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.
16087681 2005 Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes.
15944201 2005 Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy.
15852397 2005 Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.
15832310 2005 Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
15790598 2005 A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels.
15772088 2005 The role of histone acetylation in SMN gene expression.
15580564 2005 Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy.
15494309 2004 Coupled in vitro import of U snRNPs and SMN, the spinal muscular atrophy protein.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15372022 2004 The DNA sequence and comparative analysis of human chromosome 5.
15305106 2004 Significant increase in the number of the SMN2 gene copies in an adult-onset Type III spinal muscular atrophy patient with homozygous deletion of the NAIP gene.
15304326 2004 Survival motor neuron protein facilitates assembly of stress granules.
15249625 2004 Detection of novel mutations in the SMN Tudor domain in type I SMA patients.
15162126 2004 Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15130578 2004 Why do cells need an assembly machine for RNA-protein complexes?
14766219 2004 An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy.
14715275 2004 Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975319 2003 Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing.
12915451 2003 Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.
12833158 2003 A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy.
12642665 2003 Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12370479 2002 The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy.
12095920 2002 SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta.
12067652 2002 The SMN complex, an assemblyosome of ribonucleoproteins.
12065586 2002 Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex.
11993528 2002 Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease.
11925564 2002 Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.
11875052 2002 SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1.
11835381 2002 Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis.
11791208 2002 Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
11714716 2002 Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins.
11641277 2001 Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein.
11574476 2001 SMN interacts with a novel family of hnRNP and spliceosomal proteins.
11551898 2001 Osteoclast-stimulating factor interacts with the spinal muscular atrophy gene product to stimulate osteoclast formation.
11509230 2001 The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1.
11283611 2001 Spinal muscular atrophy disrupts the interaction of ZPR1 with the SMN protein.
11149922 2001 A functional interaction between the survival motor neuron complex and RNA polymerase II.
11135666 2001 SMN tudor domain structure and its interaction with the Sm proteins.
10942426 2000 Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins.
10732817 1997 Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
10732802 1998 Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.
10556282 1999 Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.
10531003 1999 Newly assembled snRNPs associate with coiled bodies before speckles, suggesting a nuclear snRNP maturation pathway.
10369867 1999 Identification of survival motor neuron as a transcriptional activator-binding protein.
10369862 1999 A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
10205267 1999 The promoters of the survival motor neuron gene (SMN) and its copy (SMNc) share common regulatory elements.
9845364 1998 A novel function for SMN, the spinal muscular atrophy disease gene product, in pre-mRNA splicing.
9837824 1998 Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
9503025 1998 Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.
9323129 1997 The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins.
9259265 1997 The survival motor neuron protein in spinal muscular atrophy.
9158159 1997 Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).
9147655 1997 Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism?
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8838816 1996 Structure and organization of the human survival motor neurone (SMN) gene.
8808598 1996 Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5.
8670859 1996 A novel nuclear structure containing the survival of motor neurons protein.
8551862 1995 SMN gene deletions in adult-onset spinal muscular atrophy.
7813012 1995 Identification and characterization of a spinal muscular atrophy-determining gene.
7658877 1995 Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy.
7639755 1995 Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.
7552146 1995 A provisional transcript map of the spinal muscular atrophy (SMA) critical region.