GBA gene

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

Papers overview

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2014
2014
Gaucher disease is the most frequent lysosomal storage disorder due to the deficiency of the acid β-glucosidase, encoded by the… (More)
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2011
2011
BACKGROUND In Gaucher disease (GD), acid-β-glucosidase (GBA1) gene mutations result in defective glucocerebrosidase and variable… (More)
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Highly Cited
2011
Highly Cited
2011
Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to the lysosomal storage disorder… (More)
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Highly Cited
2011
Highly Cited
2011
OBJECTIVE Heterozygous mutations in the GBA1 gene elevate the risk of Parkinson disease and dementia with Lewy bodies; both… (More)
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2010
2010
Altering intracellular calcium levels is known to partially restore mutant enzyme homeostasis in several lysosomal storage… (More)
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Review
2009
Review
2009
Research in Parkinson's disease (PD) genetics has been extremely prolific over the past decade. More than 13 loci and 9 genes… (More)
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Highly Cited
2009
Highly Cited
2009
OBJECTIVE To characterize sequence variation within the glucocerebrosidase (GBA) gene in a select subset of our sample of… (More)
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Highly Cited
2004
Highly Cited
2004
BACKGROUND A clinical association has been reported between type 1 Gaucher's disease, which is caused by a glucocerebrosidase… (More)
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Highly Cited
2002
Highly Cited
2002
The lysosomal hydrolase glucocerebrosidase catalyzes the penultimate step in the breakdown of membrane glycosphingolipids. An… (More)
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Review
2000
Review
2000
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency of the enzyme… (More)
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