Property Summary

NCBI Gene PubMed Count 305
Grant Count 545
R01 Count 259
Funding $102,782,257.27
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 0.003
psoriasis 1.200 0.000

Synonym

Accession P04062 A8K796 B7Z5G2 B7Z6S1 J3KQG4 J3KQK9 Q16545 Q4VX22 Q6I9R6 Q9UMJ8
Symbols GCB
GBA1
GLUC

Gene

GBA

PANTHER Protein Class (2)

PDB

1OGS   1Y7V   2F61   2J25   2NSX   2NT0   2NT1   2V3D   2V3E   2V3F   2VT0   2WCG   2WKL   2XWD   2XWE   3GXD   3GXF   3GXI   3GXM   3KE0   3KEH   3RIK   3RIL  

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
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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
//

Text Mined References (321)

PMID Year Title
27019408 2016 Glucocerebrosidase Deficiency in Drosophila Results in ?-Synuclein-Independent Protein Aggregation and Neurodegeneration.
26743617 2016 Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
26601739 2016 Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.
26589705 2016 Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland.
26547032 2016 An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.
26422360 2015 Impact of glucocerebrosidase mutations on motor and nonmotor complications in Parkinson's disease.
26392287 2015 Glucocerebrosidase gene therapy prevents ?-synucleinopathy of midbrain dopamine neurons.
26388395 2016 Mitochondrial dysfunction associated with glucocerebrosidase deficiency.
26296077 2016 GBA Variants are associated with a distinct pattern of cognitive deficits in Parkinson's disease.
26268663 2016 Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI).
More...