×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
BEFREE
Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene.
31678773
2019
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
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
0.770
GeneticVariation
disease
BEFREE
To explore this, we studied neuronopathic Gaucher disease (nGD), caused by mutations in GBA .
30013199
2018
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
BEFREE
Fluorinated Chaperone-β-Cyclodextrin Formulations for β-Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease .
28171725
2017
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
BEFREE
Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry.
28040394
2017
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
26027833
2015
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
BEFREE
These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein-, APP- and Aβ-aggregates) in nGD .
24599400
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
Functional analysis of 11 novel GBA alleles.
24022302
2014
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
21250698
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
New glucocerebrosidase inhibitors by exploration of chemical diversity of N-substituted aminocyclitols using click chemistry and in situ screening.
21370884
2011
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
Hyperferritinemia and iron overload in type 1 Gaucher disease.
20575041
2010
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.
12359135
2003
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202
2002
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
BEFREE
We report the first characterization of a GBA genotype associated with the development of neutralizing antibody to alglucerase , in a patient affected with type 3 Gaucher disease .
11600137
2001
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
10757640
2000
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
D409H/D409H genotype in Gaucher-like disease.
9040001
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
CTD_human
Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat.
9101438
1997
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
UNIPROT
Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
8780099
1996
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
1840477
1991
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
BEFREE
A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease .
2468600
1988
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
Biomarker
disease
GENOMICS_ENGLAND
Hydrops fetalis associated with Gaucher disease.
6504764
1984
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
CausalMutation
disease
CLINVAR
×
Entrez Id:
2629
Gene Symbol:
GBA
GBA
0.770
GeneticVariation
disease
CLINVAR
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.310
Biomarker
disease
BEFREE
These studies implicate defective GCase function and GC/GS accumulation as risk factors for mitochondrial dysfunction and the multi-proteinopathies (α-synuclein -, APP- and Aβ-aggregates) in nGD .
24599400
2014