×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
AlteredExpression
BEFREE
In this work, we provide evidence that the Wnt signaling multi-domain intracellular transducers DISHEVELLED 1 and 2 (DVL1 and DVL2) may be potential upstream targets of impaired beta glucosidase (GBA1 ) activity by showing their misexpression in different type 1 Gaucher disease in vitro models.
31816052 2020
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
30712880 2019
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
AlteredExpression
BEFREE
Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase , is classically considered non-neuronopathic.31613991 2019
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
BEFREE
Gaucher disease is an inherited metabolic disease caused by genetic acid β -glucosidase (GBA) deficiency and is currently treated by enzyme replacement therapy.
30822514 2019
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
AlteredExpression
BEFREE
This study provides novel pharmacokinetic data that support current imiglucerase administration regimens and suggests the existence of a glucocerebrosidase activity threshold related to Gaucher disease type 1 aggressiveness.
30128966 2019
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
BEFREE
Both patients with non-neuronopathic Gaucher disease (GD ) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD).
27866808 2018
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
BEFREE
Together, this comprehensive data set supports the treatment of adult and paediatric patients with GD who are naïve to ERT or who have previously been treated with imiglucerase .
29471850 2018
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.
29527153 2018
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
27735925 2017
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
26905200 2016
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
26868973 2016
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
27717005 2016
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Differential effects of severe vs mild GBA mutations on Parkinson disease.
25653295 2015
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
BEFREE
These findings demonstrate that loss of GBA function may contribute to SNCA accumulation through inhibition of autophagy via PPP2A inactivation, thereby providing a mechanistic basis for the increased PD risk associated with GBA deficiency .
26378614 2015
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
BEFREE
Loss of lysosomal glucocerebrosidase (GBA1 ) function is responsible for several organ defects, including skeletal abnormalities in type 1 Gaucher disease (GD ).
25326392 2015
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
26096741 2015
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
CTD_human
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
26027833 2015
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
25456120 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
24522292 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1 .
24577513 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
CausalMutation
CLINVAR
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
25127542 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
BEFREE
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene.
24522292 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
24434810 2014