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GBA gene

Known as: GLUCOSYLCERAMIDASE, GBA, ACID BETA-GLUCOSIDASE 
This gene is involved in glycolipid metabolism.
National Institutes of Health

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GBA wt Allele
GLUCOSYLCERAMIDASEGaucher DiseaseHydrolysis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Parkinson's disease: acid‐glucocerebrosidase activity and alpha‐synuclein clearance
The role of mutations in the gene GBA1 encoding the lysosomal hydrolase β‐glucocerebrosidase for the development of… 
2010
2010
Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy
Gaucher disease is caused by a deficiency of the lysosomal enzyme glucocerebrosidase (acid β-glucosidase), with consequent… 
Highly Cited
1994
Highly Cited
1994
Functional human saposins expressed in Escherichia coli. Evidence for binding and activation properties of saposins C with acid beta-glucosidase.
Small (80-amino acid) glycoproteins or saposins are important for the in vivo function of several lysosomal hydrolases. Four… 
Highly Cited
1992
Highly Cited
1992
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with‐glucocerebrosidase deficiency…
We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and… 
Highly Cited
1992
Highly Cited
1992
High levels of human glucocerebrosidase activity in macrophages of long-term reconstituted mice after retroviral infection of hematopoietic stem cells.
Gaucher disease is a leading candidate for somatic gene therapy using bone marrow (BM) cells as target tissue. Towards this end… 
1991
1991
A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.
We have identified a new T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon 6 in the… 
Highly Cited
1990
Highly Cited
1990
Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
Three major forms (types I-III) of Gaucher disease (GD) have been identified. The largest group of patients with type III GD has… 
Highly Cited
1990
Highly Cited
1990
The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.
1989
1989
Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences.
To study structure-function relationships and molecular evolution, we determined the nucleotide sequence and chromosomal location… 
Highly Cited
1989
Highly Cited
1989
Posttranslational processing of human lysosomal acid beta-glucosidase: a continuum of defects in Gaucher disease type 1 and type 2 fibroblasts.
The major processing steps in the maturation of the lysosomal hydrolase, acid beta-glucosidase, were examined in fibroblasts from… 
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