×
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
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
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
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
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
GeneticVariation
UNIPROT
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
24434810 2014
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Novel pathogenic mutations in the glucocerebrosidase locus.
22658918 2012
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
CTD_human
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
21250698 2011
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
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
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Hyperferritinemia and iron overload in type 1 Gaucher disease.
20575041 2010
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.
21098288 2010
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
19846850 2009
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
18332251 2008
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Glucocerebrosidase mutations and risk of Parkinson disease in Chinese patients.
17620502 2007
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations.
16293621 2006
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
15605411 2005
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Gaucher disease: pathological mechanisms and modern management.
15813845 2005
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Use of fluorescent substrates for characterization of Gaucher disease mutations.
15916907 2005
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.
15826241 2005
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
15292921 2004
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
GENOMICS_ENGLAND
Inherited interstitial lung disease.
15331184 2004
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
Biomarker
CTD_human
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
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
11992489 2002
×
Entrez Id: 2629
Gene Symbol: GBA
GBA
Gaucher Disease, Type 1
1.000
GeneticVariation
UNIPROT
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
11933202 2002