rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
UNIPROT
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
The given study establishes p.Leu483Pro as the most prevalent mutation in the Indian patients with type 1 Gaucher disease that provide new insight into the molecular basis of Gaucher Disease in India.
30764785
2019
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
GeneticVariation
CLINVAR
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Our results suggest that GBA deficiency due to L444P GBA heterozygous mutation and the accompanying accumulation of α-synuclein render DA neurons more susceptible to MPTP intoxication.
29310663
2018
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele.
31613991
2019
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
G
0.850
CausalMutation
CLINVAR
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Here, we describe the case of an adult non-Jewish Caucasian male with a heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene) who presented with atypical morphology of GC on bone marrow examination.
21113739
2011
rs421016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
30285649
2018
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Genetic and clinical features of patients with Gaucher disease in Hungary.
17395504
2007
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
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
2009
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
26096741
2015
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
10796875
2000
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Other characteristics of patients presenting with severe PH were poor compliance to ERT (4/9 patients) or no ERT (5/9 patients), a family history of a sib with GD and PH (2/2 patients), an excess of ACE I allele (OR 2.3, 95% CI 1.1-4.9, P=0.034) and an excess of non-N370S GBA mutation (OR 6.0, 95% CI 1.1-33, P=0.003).
12359135
2003
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
All but one patient with GD1 /PD phenotype had at least one N370S GBA1 allele.
20177787
2010
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
19846850
2009
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
18338393
2008
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant.
22592100
2012
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
BEFREE
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease : an analysis of 798 patients from the ICGG Gaucher Registry.
18979180
2008
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
26905200
2016
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Differential effects of severe vs mild GBA mutations on Parkinson disease.
25653295
2015
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
25456120
2014
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
26868973
2016
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.
24756352
2014
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
C
0.850
CausalMutation
CLINVAR
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
18979180
2008
rs76763715
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
Gaucher Disease, Type 1
0.850
GeneticVariation
UNIPROT
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
19888064
2009