Property Summary

NCBI Gene PubMed Count 305
PubMed Score 1484.17
PubTator Score 904.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.300 2.6e-03
psoriasis 1.200 1.1e-53

Protein-protein Interaction (1)

Gene RIF (251)

PMID Text
27019408 Our findings indicate that dGBA1b plays an important role in the metabolism of protein aggregates, but that the deleterious consequences of mutations in dGBA1b are largely independent of a-synuclein
26743617 there has been a boom in studies investigating the role of glucocerebrosidase in the pathology of Parkinson's disease. This merits a comprehensive review of the current cell biological processes and pathological pictures involving Parkinson's disease associated with GBA mutations
26601739 Its genetic variation influences Parkinson disease risk, age of onset, and progression.
26589705 In this study, we produced hGCase through the direct injection of recombinant adenovirus in the mammary gland of a non-transgenic goat
26547032 the most frequent L444P mutation of the GBA gene may be associated with the development of early-onset Parkinson disease in the Hungarian population.
26422360 findings showed that Gaucher disease (GD)-associated GBA mutations were not only associated with the development of Parkinson's disease (PD) but also had a great impact on developing dementia and psychosis in the clinical course of PD
26296077 This study discovery that E326K of GBA negatively impacts cognitive performance approximately doubles the proportion of PD patients
26268663 This study showed the presence of six LRRK2 p.G2019S and nine GBA p.N370S mutation carriers in Parkinson disease.
26220978 GBA1 mutations interfere with TFEB-mediated lysosomal biogenesis, and that the action of GBA in maintaining a functioning pool of lysosomes is exerted in part through TFEB.
26214314 The most highly correlated pair of residue variations is alpha-synuclein A53T and glucocerebrosidase G115E. Intriguingly, the A53T mutation is a Parkinson's disease risk factor in humans, suggesting the pathology associated with this mutation
26117366 The association of lower glucocerebrosidase activity in both GBA mutation carriers and Parkinson's patients without GBA mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson's disease.
26096906 This study did not demonstrate glucocerebrosidase substrate accumulation in Parkinson's disease brains with heterozygote GBA1 mutations in areas of the brain with low alpha-synuclein pathology.
26018676 Although hrGCase cellular uptake is independent of LIMP-2, its trafficking to the lysosomes is mediated by this receptor.
26000814 GBA mutations were found to be a common genetic risk factor for Parkinson disease in Eastern Canadian patients.
25952961 A pattern of combined segregation with GBA and LRRK2 was found in a Brazilian family with Parkinson's disease.
25946768 Five novel mutations causing Gaucher disease reported. Slovak patients show a profile characteristic of European population, with the N370S, L444P and RecNciI mutations being the most prevalent.
25914293 Data indicated that GBA and TMEM175/GAK significantly alter age at onset in PD.
25813221 Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation.
25653295 mild and severe heterozygous GBA mutations differentially affect the risk and age at onset of Parkinson disease (Meta-Analysis)
25600808 Binding of C-terminal residues of Saposin C stabilizes glucocerebrosidase monomer. Dimer dissociation by Saposin C likely due to binding near enzymatic active site.
25583479 the Hsp90/HOP/Cdc37 complex recruits Hsp27 after recognition of GCase mutants with subsequent targeting of GCase mutant peptides to degradation mechanisms such as VCP and the 26S proteasome.
25552189 Ceramide, the product of hydrolysis of glucosylceramide by GBA and involved in the regulation of cell differentiation, survival and apoptosis, is another putative candidate linking increased GBA activity to preeclampsia.
25535748 The present study used a meta-analysis approach, pooling the appropriate data from published studies to investigate the association of GBA mutations and Parkinson's disease in a Chinese population.
25518742 Data indicate that the frequency of glucocerebrosidase gene (GBA) mutations within Chinese Parkinson's disease (PD) cohort was 8.7%, which is significantly higher than 1.54% observed in the control cohort.
25506732 GBA mutation-positive individuals show a deterioration in clinical markers consistent with the prodrome of Parkinson.
25448271 This study show that GBA-associated PD patients compared with non-mutation PD patients present with (1) more rapid disease progression of motor impairment and cognitive decline and (2) reduced survival rates.
25429104 We propose a model of a-syn.GCase on the membrane, providing structural insights into inhibition of GCase by a-syn
25249066 This study demonstrated that Glucocerebrosidase mutations in primary parkinsonism.
25202012 The LIMP-2/SCARB2 binding sequences for enterovirus 71 and GCase are not similar, indicating that LIMP-2/SCARB2 may have multiple or overlapping binding sites with differing specificities.
25168325 The N370S GBA mutation is the risk factor for cognitive impairment in Parkinson disease patients.
25156829 GBA1 depletion enhances cell-to-cell transmission of alpha-synuclein, conforming GBA1 role in alpha-syneclein transmission.
25084554 G202R mutation in glucocerebrosidases causes Gaucher disease.
24997549 GBA mutations are an important risk of Parkinson's disease in the Thai population.
24919969 Different short-term memory deficit patterns are associated with GBA mutation and with Parkinson's disease.
24905578 findings provide evidence for a link between GBA1 mutations and complex changes in the autophagic/lysosomal system and intracellular calcium homeostasis, which underlie vulnerability to neurodegeneration
24756352 Patients with Gaucher disease and glucocerebrosidase heterozygotes have an increased age-specific risk for Parkinson disease compared with control individuals
24577513 The novel heterozygous mutations c.798C>G and c.1040T>G. in a consanguineous Iranian family were associated with 2 fatal untreated cases and 1 severe case successfully treated with enzyme replacement.
24574503 Glucocerebrosidase mutations are associated with reductions in glucosylceramidase activity and evidence of oxidative stress.
24531622 There is now a well-established clinical association between mutations in the glucocerebrosidase gene and the development of more prevalent multifactorial disorders including Parkinson's disease and other synucleinopathies
24522292 L444P is the most common mutant allele with exons 8 and 10 as the hot spot region of GBA gene observed in Indian GD patients.
24477431 Glucocerebrosidase deficits in sporadic Parkinson's disease are related to the abnormal accumulation of alpha-synuclein and are associated with substantial alterations in lysosomal chaperone-mediated autophagy pathways and lipid metabolism.
24434810 study describes 2 novel mutations in 2 Type 1 Gaucher patients with N370S compound heterozygosity; a point mutation that causes an amino acid substitution at cysteine residue 23 for tryptophan, and a second point mutation within the splicing element at the 3' end of intron 7
24351928 glucocerebrosidase activity is increased after administration of celastrol in Gaucher disease cells by modulating molecular chaperones
24262184 The lysosomal enzyme coding genes GBA which are associated with a 5-fold increased risk of Parkinson disease.
24243800 GBA mutation status may be significantly associated with Parkinson's disease (Meta-Analysis)
24219755 GBA mutations represent a major genetic risk factor for the development of Parkinson disease (PD); GBA-PD is clinically, pharmacologically, and pathologically virtually indistinguishable from sporadic PD [review]
24126159 Heterozygous GBA mutations are strong risk factors in FPD, especially for autosomal dominant Parkinson disease.
24095219 mutations in the GBA gene represent a genetic risk factor for sporadic Parkinson disease.
24070323 Saposin C protects glucocerebrosidase against alpha-synuclein inhibition.
24022302 identification and functional characterization of 11 novel GBA mutations in Gaucher disease patients
23936319 Mutations in GBA is associated with neurodevelopmental defects and ER stress in Drosophila eye.
23812893 Although the specific contribution of mutant GBA to the pathogenesis of parkinsonism remains unknown, evidence suggests that both loss of function and toxic gain of function by abnormal ss-glucocerebrosidase may be important.
23811968 This study demonustrated that GBA mutation related to Parkinson's disease in Gaucher disease.
23719189 Two novel mutations, a missense (c.1204T>C, p.Y402H), and a termination codon mutation (c.1609T>C, p.X537A)in GBA gene were found. The p.X537A mutation decreased the amount of protein and the enzymatic activity, while it correctly localizes.
23699752 Patients having Parkinson's disease with GBA mutations have earlier age at disease onset and are more likely to demonstrate cognitive dysfunction.
23676350 meta-analysis provides evidence that both mutations are risk factors associated with increased PD susceptibility.
23639447 Retinal thinning in Gaucher disease patients and heterozygous GBA mutation carriers who manifest clinical markers of potential early neurodegeneration.
23635853 Our patient had an unusual mutation responsible for his GD. Although corneal opacities are virtually unknown in gaucher disease, except in the D409H homozygous cardiovascular subtype, this patient had marked corneal stromal abnormalities.
23588557 Mutations in GBA1 are a significant risk factor for dementia with Lewy bodies.
23580063 Loss of beta-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells.
23490118 from the genetic point of view we can exclude that GBA mutations are a major cause of multiple system atrophy
23448517 The L444P GBA mutation is associated with early-onset Parkinson's disease in Mexican Mestizos.
23434032 FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts
23426826 a novel L385R missense mutation that is associated with type 1 Gaucher disease (GD).
23418083 No white matter abnormalities were found in Parkinson's disease patients without glucocerebrosidase gene mutations.
23413260 Genetic variation in GBA has an important impact on the natural history of Parkinson's disease.
23286447 results suggests that the GBA gene may be a susceptibility gene for Parkinson's disease in the Chinese population (meta-analysis)
23255161 ITCH interacts with mutant GCase variants and mediates their lysine 48 polyubiquitination and degradation.
23227814 Our observations demonstrated that the GBA L444P mutation confers genetic risk for Parkinson disease, especially late oneset Parkinson disease, among the population in the central China area.
23225227 the most prevalent Parkinson's disease-associated GBA1 mutation is E326K
23151436 There is no significant association of GBA gene Leu444Pro mutation and disease in a sample of essential tremor and multiple system atrophy patients from mainland China.
23079555 [review] Identification of the pathological mechanisms underlying GBA-associated parkinsonism will improve our understanding of the genetics, pathophysiology, and treatment for both rare and common neurological diseases.
23062841 Both transcranial sonography and positron emission tomography are abnormal in glucocerebrosidase mutation associated Parkinson disease, similar to other Parkinson disease subjects
23035075 GBA is a susceptibility gene across the Lewy body disease spectrum, but not in Alzheimer disease , and appears to convey a higher risk for parkinson disease and Lewy body disease than for Lewy body disease -Alzheimer disease .
23034917 This studiws confirm a widespread deficiency of GCase activity in the brains of parkinson disease patients carrying GBA mutations
22968580 GBA1 heterozygotes with non-N370S mutations associated with Gaucher disease have an increased risk of parkinsonism compared to those with N370S mutations.
22935721 Data indicate age-specific estimates of Parkinson disease penetrance in patients with Gaucher disease and beta-glucocerebrosidase (GBA) carriers for genetic counseling.
22812582 Glucocerebrosidase mutations represent a PD risk factor in the Serbian population.
22803570 Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in brain cells of patients with Lewy body disease.
22659419 GBA1 and GBA2 activities had characteristic differences between the studied fibroblast, liver and brain samples.
22658918 The GBA1 gene was sequenced as part of a molecular characterization of 73 adult patients in the United Kingdom.
22542428 The genotype GBA-N370S/RecNciI was most frequent in patients with Gaucher disease childhood onset and it was associated with severe visceral involvement.
22493294 Discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.
22442429 GBA mutation status may be an independent risk factor for cognitive impairment in patients with PD.
22427207 Heterozygous mutations in the gene encoding the lysosomal enzyme beta-glucocerebrosidase (GBA) are associated with an increased susceptibility to Parkinson's disease.
22387070 Our results suggest that heterozygous mutations of GBA represent a risk factor for Parkinson disease in Koreans.
22352271 lung disease in children homoallelic for L444P mutation in GBA gene is a significant clinical manifestation of GD with unclear response to ERT.
22344629 This study providenced evidence that GD patients and heterozygote GBA mutation carriers exhibit certain features consistent with the PD clinical prodrome.
22282650 The relatively high penetrance estimate in GBA carriers with Parkinson Disease suggests that GBA should be considered a dominant causal gene with reduced penetrance.
22227325 properties of E326K glucocerebrosidase alone and in combination with known Gaucher Disease mutations are presented
22220748 Based on estimates of the frequencies of N370S and L444P GBA mutatons in the general population of Spain, the number of patients with Gaucher disease that are homozygous for N370S and heterozygous for N370S/L444P were below the expected numbers.
22192918 This study demonistrated that Glucocerebrosidase N370S and L444P mutations as risk factors for Parkinson's disease in Brazilian patients.
22173904 The results of this study suggested that mutations in the glucocerebrosidase gene increase the risk of both Parkinson's disease and Lewy body dementia
22167193 IFG stabilizes GCase in tissues and serum and can reduce visceral substrates in vivo.
22021190 This study demonistraed that abnormalities of fatty acid metabolism are specifically involved in the pathogenesis of Parkinson's disease associated with a heterozygous glucocerebrosidase mutation.
22001711 Sequence variations at the glucocerebrosidase gene may play a role as a minor, modifying gene of Machado Joseph/spinocerebellar ataxia 3 phenotype.
21915911 The study demonistrated that GBA L444P, N370S mutations are genetic susceptibility factors for Parkinson's disease in Russia.
21889374 novel F331S mutation in the GBA gene in patients with Gaucher disease type 2
21856586 This study indicated that GBA variation contribute to development of Parkinson disease in French-Canadian.
21831682 Biochemical characterization of the E326K amino acid change (1093G>A in the GBA1 cDNA) in tissue culture and its association with Parkinson disease, are summarized.
21745757 GBA mutations were identified with increased frequency in both geographical cohorts of patients with sporadic Parkinson's disease studied compared to control individuals.
21742527 Patients with GBA1-associated synucleinopathies showed aggregation of oligomeric forms of alpha-synuclein in the SDS-soluble fraction, while only monomeric forms of alpha-synuclein were seen in subjects with GBA1 mutations without parkinsonism.
21734182 Patients with GBA-PD more often had a variety of nonmotor symptoms, namely dementia, neuropsychiatric disturbances, and autonomic dysfunction, and had more severe cases, than patients with PD negative for GBA mutations.
21723784 link between glucocerebrosidase mutations and parkinsonism [review]
21700325 These findings suggest that the bidirectional effect of alpha-syn and glucocerebrosidase forms a self-propagating feedback loop Gaucher disease.
21653695 the alpha-syn-GCase association is favored in the lysosome, and that this noncovalent interaction provides the groundwork to explore molecular mechanisms linking PD with mutant GBA alleles.
21633851 L444P is the most common allele and L444P/Rec alleles are the most common genotypes in Egyptian children. There is no significant association between genotypes and phenotypes.
21621439 Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease
21569768 The kinetics of alpha-galactosidase A and beta-glucocerebrosidase deficient in Fabry and Gaucher diseases, respectively, is reported.
21338444 The Leu444Pro mutation in GBA may contribute to an earlier onset of development of Parkinson's disease in a Han/Chinese population.
21242499 study found GBA mutations were more frequent in patients of North African origin with Parkinson disease than in ethnically matched control subjects
21221911 In this article we review the GBA gene and its protein product, with associated defects, lipid metabolism and storage, enzyme misfolding and endoplasmic reticulum stress, calcium homeostasis, oxidative stress and autophagy.
21098288 Data suggest that specific molecular mediators involved in glucocerebrosidase maturation and degradation, and abnormal interaction with TCP1 and c-Cbl, could be responsible for phenotypic variation among patients with the same genotypes.
21087600 The c.(-203)A>G variant may produce a more severe phenotype in patients with Gaucher disease
21087600 Observational study of gene-disease association. (HuGE Navigator)
20980263 N370S mutation in acid beta-glucosidase results in a normally folded but less flexible protein with reduced catalytic activity compared with imiglucerase
20980259 Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S
20971030 GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson's disease
20947659 Observational study of gene-disease association. (HuGE Navigator)
20816920 A strong association is found between glucoscerebrosidase gene mutations and an increased risk of early-onset Parkinson's disease in a Brazilian population.
20816920 Observational study of gene-disease association. (HuGE Navigator)
20729108 Observational study of gene-disease association. (HuGE Navigator)
20700730 Apolipoprotein E, growth factor receptor-bound protein 2, Golgi SNAP receptor complex member 1, and glucosidase, beta, acid may play a neurodegenerative role in stress urinary incontinence development.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20580583 Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease
20528910 Observational study of gene-disease association. (HuGE Navigator)
20425034 To date, there are approximately 300 mutations and polymorphisms in the GBA gene that have been identified in patients with varying presentations of Gaucher disease, Parkinson disease and Lewy body disorders.
20223112 Observational study of gene-disease association. (HuGE Navigator)
20182943 We compared Mini-Mental State Examination performance and self-reported cognitive impairment in early onset Parkinson diseaseparticipants genotyped for mutations in parkin, leucine-rich repeat kinase-2, and glucocerebrosidase
20182943 Observational study of gene-disease association. (HuGE Navigator)
20177787 patients with Gaucher disease 1 have an almost 20-fold increased life-time risk of developing Parkinson disease
20148966 isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
20131388 The results of this study suggested that the GBA gene L444P mutation appears to be a risk factor for Parkinson's disease in Chinese population.
20053430 Functional expression of hGCase in mammary gland cells and normal development to Day 40 of cloned embryos carrying the hGCase gene.
20004703 data suggest that the GBA L444P mutation plays an important role in the development of Parkinson's disease also in Han-Chinese patients from Mainland China
20004703 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19945510 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19882201 Observational study of gene-disease association. (HuGE Navigator)
19846850 Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson's disease.
19846850 Observational study of gene-disease association. (HuGE Navigator)
19578116 Upon binding of ambroxol, amino acid segments 243-249, 310-312, and 386-400 near the active site of glucocerebrosidase are stabilized.
19527940 The GBA mutation is not associated with essential tremor.
19527940 Observational study of gene-disease association. (HuGE Navigator)
19460752 Knockdown of glucosidase, beta, acid (GBA; GLUC) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
19459886 Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications.
19458969 LRRK2 or GBA mutations have roles in the initial presentation of Parkinson disease
19433657 GBA mutations may be associated with pathologically "purer" LB disorders, characterized by more extensive (cortical) LB, and less severe AD pathological findings and may be a useful marker for LB disorders.
19433657 Observational study of gene-disease association. (HuGE Navigator)
19433656 Heterozygous pathogenic variants in GBA confer a high risk for sporadic PD, even for familial clustering, and are associated with significantly earlier age at onset of disease.
19433656 Observational study of gene-disease association. (HuGE Navigator)
19425057 There is an association between GBA mutations and the development of parkinsonism. GBA mutation is a PD risk factor across different centers, synucleinopathies, and ethnicities. Review.
19394250 Three novel Glucocerebrosidase variants were identified and assessed as being likely pathogenic mutations: c.413delC, W357C and D405V.
19394250 Observational study of gene-disease association. (HuGE Navigator)
19383421 Overall, GBA mutations were significantly overrepresented in a subgroup of early onset PD patients, compared to controls (P = 0.019, OR = 4.2; 95%CI = 1.28 -- 13.82), suggesting that GBA mutations may modify age of onset for PD.
19383421 Observational study of gene-disease association. (HuGE Navigator)
19332698 GBA mutations are not associated with multiple system atrophy (MSA)in 108 neuropathologically diagnosed cases of MSA; this branch of the ceramide pathway is unlikely to be associated with all types of primary (alpha)-synuclein deposition.
19332698 Observational study of gene-disease association. (HuGE Navigator)
19286695 This study demonstrates that GBA mutations are found in British subjects (on a non-Jewish patient sample)at a higher frequency than any other known Parkinson's disease gene.
19286695 Observational study of gene-disease association. (HuGE Navigator)
19260119 Homozygous N370S GD leads to adult-onset progressive skeletal disease with relative sparing of the viscera, a strikingly high risk of multiple myeloma, and an increased risk of other cancers.
19260119 Observational study of gene-disease association. (HuGE Navigator)
19224617 This study found that no associations were seen for GBA in Australia patient with Parkinson's disease
19224617 Observational study of gene-disease association. (HuGE Navigator)
18987351 GBA is a susceptibility gene for familial Parkinson disease (PD); patients with GBA variants have an earlier age at onset than patients with PD without GBA variants
18987351 Observational study of gene-disease association. (HuGE Navigator)
18979180 Observational study of gene-disease association. (HuGE Navigator)
18852351 In the homozygous and heterozygous states, GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease, mostly of the akinetic type, to a less common phenotype characteristic of Lewy body dementia.
18829375 Observational study of gene-disease association. (HuGE Navigator)
18674488 Observational study of gene-disease association. (HuGE Navigator)
18619939 The low levels of human lysosomal glucocerebrosidase activity results from a cryptic splice site present in the wildtype Gcc complementary DNA.
18586596 Observational study of gene-disease association. (HuGE Navigator)
18586535 GENOTYPE/PHENOTYPE RELATIONSHIPS IN GAUCHER DISEASE
18562733 Observational study of gene-disease association. (HuGE Navigator)
18541113 Strong evidence for linkage was detected on the chromosome 2q35-q36 region (logarithm of odds score of 3.01). Therefore, this region might harbor a novel important gene for DLB.
18434642 These data demonstrate genotype-phenotype correlations between different glucocerebrosidase mutations and Parkinson disease (PD) risk and age at PD onset in Ashkenazi Jews.
18434642 Observational study of gene-disease association. (HuGE Navigator)
18429048 Using 5 microsatellite polymorphisms near the GBA gene, 37 chromosomes analysed showed that most of them share a common haplotype and are consistent with a single origin in the Balkans and the Adriatic area of Italy for the D409H;H255Q allele.
18338393 discuss the spectrum of glucocerebrosidase mutations and their distribution in the patient population, evolutionary conservation, clinical presentations, and how they may affect the structure and function of glucocerebrosidase
18332251 We observed a significantly higher heterozygote frequency for the 2 mutations (N370S and L444P) in patients with PD and those with DLB.
18332251 Observational study of gene-disease association. (HuGE Navigator)
18313951 first report of a Gaucher disease patient carrier of de novo mutation, without previous family history of this mutation
18264947 Observational study of genotype prevalence. (HuGE Navigator)
18178337 Asparagine 370 Serine mutation is responsible for Gaucher disease.
18160183 These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease.
18160183 Observational study of gene-disease association. (HuGE Navigator)
18078074 126 mutation alleles from 136 investigated alleles were identified.
18074383 These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD.
18074383 Observational study of gene-disease association. (HuGE Navigator)
18030725 Association of GBA gene mutation and Gaucher disease.
17996473 Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase.
17875915 Observational study of gene-disease association. (HuGE Navigator)
17875915 This study suggests that the Glucocerebrosidase gene may be a susceptibility gene for Parkinson disease and that Glucocerebrosidase mutations may modify age at onset.
17713797 Clinical manifestation of Gaucer disease is driven by point mutation and the placement of S-binding sites.
17703984 evidence for glucocerebrosidase gene mutations being a possible hereditary risk factor for PD.
17703984 Observational study of gene-disease association. (HuGE Navigator)
17702778 Observational study of gene-disease association. (HuGE Navigator)
17702778 Mutations of the GBA gene may be associated with the development of EOPD in Taiwan.
17689991 gene sequencing and mRNA analysis in four patients from three unrelated families with type 3 Gaucher disease
17620502 The L444P mutation is associated with an increased risk of PD anmong the Chinese population.
17574891 report from Lebanon describes a family with Gaucher disease caused by a heterozygous genotype of a rare mutation, R48W, and a common one, L444P
17462935 Observational study of gene-disease association. (HuGE Navigator)
17462935 study demonstrates that GBA mutations are also encountered in Chinese subjects with sporadic Parkinson disease (PD) at higher frequency than many other PD genes & association of GBA mutations with development of PD is not related to ethnic origin
17427031 Observational study of genotype prevalence. (HuGE Navigator)
17427031 identified 98.7% of mutated GBA alleles, finding 56 different mutations & 66 genotypes causing Gaucher disease in Spain: 47 previously described & 9 novel; findings indicate genotypic heterogeneity explaining phenotypic variation in Spanish GD patients
17187079 Isofagomine binds to the acid beta-glucosidase (GCase) active site, and both increases GCase activity in cell lysates and restores lysosomal trafficking in cells containing N370S mutant GCase.
16996765 Observational study of genotype prevalence. (HuGE Navigator)
16981045 Observational study of genotype prevalence. (HuGE Navigator)
16861620 Turning off hGCase expression led to storage cell reaccumulation of GC and macrophage activation in liver, lung, and spleen, demonstrating that conditionally expressed hGCase supplements mutant mouse GCase controlling visceral substrate accumulation
16830265 the double D409H+H255Q allele may have a role in type II Gaucher disease within specific populations
16790605 Glucocerebrosidase mutations are an important risk factor for Lewy body disorders
16781064 Mutations in glucocerebrosidase are identified at an increased frequency among Parkinson probands, including those of Ashkenazi Jewish ancestry.
16476943 This study does not indicate increased susceptibility to Parkinson disease in glucocerebrosidase mutations carriers in Norway.
16329099 Two novel disease-causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4426A>G, that have been found in two patients affected by Gaucher disease.
16223608 Glucocerebrosidase fusion proteins with the HIV-1 Tat transduction domain are internalized by cells and localize to endosomes and lysosomes, suggesting a novel strategy for generating therapeutic enzymes for Gaucher disease enzyme replacement therapy
16148263 Observational study of gene-disease association. (HuGE Navigator)
16148263 The overall clinical manifestations and age at Parkinson disease onset of Ashkenazi Jews did not differ in patients with GBA mutations compared to patients without mutations.
16086325 the glucocerebrosidase Gaucher mutation N188S associated with myoclonic epilepsy
15982918 Data describe the intracellular trafficking of glucocerebrosidase as an underlying mechanism for the expression of the clinical phenotype.
15967693 The high frequency of the E326K substitution observed in patients with GD type 2 suggests that this change may have a modulating negative effect on the clinical condition of these Gaucher disease patients when present in combination with mutation L444P.
15954102 Expression of novel GBA mutations revealed that the enzyme defect could arise from one of two mechanisms: loss of catalytic activity (Y363C and M416V) or enzyme instability (P122L and N382K).
15857183 Observational study of genotype prevalence. (HuGE Navigator)
15610510 alteration in water permeability barrier in lesional psoriatic skin can serve as a trigger for the upregulation of the expression of enzymes like GlcCer'ase with consequent stimulation of ceramide generation.
15591280 mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism
15525722 Observational study of gene-disease association. (HuGE Navigator)
15525722 heterozygosity for a GBA mutation may predispose Ashkenazi Jews to Parkinson's disease
15517592 Observational study of gene-disease association. (HuGE Navigator)
15517592 Our results demonstrate a marginally significant association of GBA mutations with Parkinson's disease and suggest that variations in the GBA gene may constitute a rare susceptibility factor for PD.
15517591 Observational study of gene-disease association. (HuGE Navigator)
15517591 The N370S allele of glucosidase, beta (nt.1226 A>G) may be associated with Parkinson's disease in patients of Jewish ethnicity.
15322500 Six of 16 haplotypes were found, and none was over- or underrepresented among patients with the severe Gaucher disease phenotypes compared with those from patients with mild phenotypes.
15146461 a baculovirus-derived expression system to express cDNAs bearing several mutations found in Spanish Gaucher disease patients
14994233 Mutations in Glucocerebrosidase is associated with Gaucher disease
14757764 Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C
14728994 Observational study of gene-disease association. (HuGE Navigator)
12972024 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12803123 report a 36-year-old Turkish man with type I Gaucher's disease with homozygous R463C mutation without neurological involvement
12792654 X-ray structure of acid-beta-glucosidase at 2.0 A resolution
12667141 substrate specificity of the cytosolic enzyme
12587096 Reciprocal and nonreciprocal recombination at this region implies complexity in Gaucher disease.
12482401 Observational study of genotype prevalence. (HuGE Navigator)
12434014 N-n-nonyl-deoxynojirimycin chaperones beta-Glu folding at neutral pH, thus allowing the stabilized enzyme to transit from the endoplasmic reticulum to the Golgi, enabling proper trafficking to the lysosome.
12360744 Review. 2-dimensional hydrophobic cluster analysis was used to make structure predictions for the catalytic domains of clan GH-A glycoside hydrolases. Glu 235 & Glu 340 do indeed play key roles in the active site of human glucocerebrosidase as predicted.
12360742 Review. Beta-glucosidase deficiency causes autosomal recessive Gaucher disease. Cloning of the gene has allowed the characterization of few common mutations. Some have a prognostic value, favoring either a non neurological form or more severe forms.
12359135 Observational study of gene-disease association. (HuGE Navigator)
12173027 incidence of the most common mutations and phenotypic manifestations in Romanian Gaucher disease patients
12107439 PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations.
12048121 In conclusion, 12% of Hypoalphalipoproteinemia subjects were found to carry mutations in apo A-I, LCAT, or GBA genes
11933202 seven novel missense mutations in the glucocerebrosidase gene (A136E, H162P, K198E, Y205C, F251L, Q350X and I402F) and a splice site mutation (IVS10+2T-->A) were identified by direct sequencing
11708865 A protocol is described for the isolation of genomic DNA from formalin-fixed bone marrow aspirate archival specimens.
11584048 simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene

AA Sequence

MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTF      1 - 70
PALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQ     71 - 140
NLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRP    141 - 210
VSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLL    211 - 280
SGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVH    281 - 350
WYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW    351 - 420
NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMH    421 - 490
PDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ                            491 - 536
//

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15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15322500 2004 Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease.
15292921 2004 Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
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10781797 2000 Further studies on the reconstitution of glucosylceramidase activity by Sap C and anionic phospholipids.
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9554746 1998 Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
9554454 1998 Six new Gaucher disease mutations.
9516376 1998 Hematologically important mutations: Gaucher disease.
9331372 1997 Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
9279145 1997 Mutation analysis in 46 British and Irish patients with Gaucher's disease.
9225972 1997 Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
9217217 1997 Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
9182788 1997 Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
9153297 1997 Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
9061570 1997 Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
9040001 1997 D409H/D409H genotype in Gaucher-like disease.
8937765 1996 The molecular characterization of Gaucher disease in South Africa.
8907609 1996 Purification of lysosomal membrane proteins from human placenta.
8889591 1996 Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
8889578 1996 Glucocerebrosidase (Gaucher disease).
8829663 1996 Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
8829654 1996 Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
8790604 1994 Glucocerebrosidase mutations in Gaucher disease.
8780099 1996 Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
8694790 1996 Overexpression of human glucocerebrosidase containing different-sized leaders.
8432537 1993 Identification of six new Gaucher disease mutations.
8294033 1993 A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
8188616 1994 Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity.
8118460 1994 Mutations causing Gaucher disease.
8112750 1994 Two new Gaucher disease mutations.
8076951 1994 Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
7916532 1994 DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
7908905 1994 Identification of Glu340 as the active-site nucleophile in human glucocerebrosidase by use of electrospray tandem mass spectrometry.
7627192 1995 Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease.
7627184 1995 Gaucher disease in Spanish patients: analysis of eight mutations.
7613473 1995 Identification of the binding and activating sites of the sphingolipid activator protein, saposin C, with glucocerebrosidase.
6885065 1983 Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies.
6816512 1982 Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1.
6455062 1981 Assignment of the gene for acid beta-glucosidase to human chromosome 1.
6091633 1984 Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system.
4003396 1985 Gaucher disease types 1, 2, and 3: differential mutations of the acid beta-glucosidase active site identified with conduritol B epoxide derivatives and sphingosine.
3864160 1985 Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA.
3863141 1985 Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.
3687939 1987 The human glucocerebrosidase gene has two functional ATG initiator codons.
3547401 1987 Complete correction of the enzymatic defect of type I Gaucher disease fibroblasts by retroviral-mediated gene transfer.
3472750 1986 Gaucher disease: retrovirus-mediated correction of the enzymatic defect in cultured cells.
3456607 1986 Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.
3359914 1988 Structural analysis of the human glucocerebrosidase genes.
3353383 1988 Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
3001061 1986 Nucleotide sequence of cDNA containing the complete coding sequence for human lysosomal glucocerebrosidase.
2914709 1989 The human glucocerebrosidase gene and pseudogene: structure and evolution.
2438102 1987 Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA.
2295698 1990 A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
1974409 1990 Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
1972019 1990 Sequence of two alleles responsible for Gaucher disease.
1899336 Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
1698821 1990 High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease.
1594045 1992 Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
1572652 1992 Polymorphisms in the human glucocerebrosidase gene.