glucocerebrosidase


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glucocerebrosidase

[‚glü·kō‚ser·ə′bräs·i‚dās]
(biochemistry)
An enzyme that removes the glucose from glycosyl ceramide and is defective or missing in Gaucher's disease.
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References in periodicals archive ?
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
LTI-291, LTI's lead programme, aims to stimulate the activity of glucocerebrosidase (GCase) in the brain.
GD results from mutations that reduce activity of the enzyme glucocerebrosidase (GCase), causing impaired lysosomal function.
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
Some examples are variants in the glucocerebrosidase (GBA) [40], the sphingomyelin phosphodiesterase 1 (SMPD1) [41], and the GTP cyclohydrolase 1 (GCH1) [42] genes, responsible for Gaucher's disease, Niemann-Pick A disease, and doparesponsive dystonia (DRD), respectively.
GD affects the ability of cells to break down a specific type of fat, glucocerebroside (GC), as a result of the deficiency or limited activity of the enzyme glucocerebrosidase (GCase).
Specific therapy for the nonneuronopathic manifestations of Gaucher disease has been available since 1991 firstly in the form of the macrophage targeted placenta-derived glucocerebrosidase (alglucerase, Ceredase [R], Genzyme Corporation, MA) (7), and subsequently (1994 in USA and 1997 in Europe) by recombinant human enzyme, imiglucerase (Cerezyme[R], Genzyme Corporation, MA) (8).
DNA mutations resulting in the production of a specific enzyme called glucocerebrosidase (GBA) have been linked to a five-fold greater risk of developing Parkinson's disease; however, only 30 percent of individuals with this mutation have been shown to develop Parkinson's disease by the age of 80.
DNA mutations resulting in the production of a specific enzyme called glucocerebrosidase (GBA) have been linked to a five-fold greater risk of developing Parkinson's disease; however, only 30% of individuals with this mutation have been shown to develop Parkinson's disease by the age of 80.
Type I is a disorder caused by a lack of glucocerebrosidase, an enzyme that helps clear glucocerebroside from cellular structures called lysosomes.
Oral GCD is a plant cell expressed form of the glucocerebrosidase enzyme (GCD) that is naturally encapsulated within carrot cells and administered orally.
Gaucher Disease is caused by a deficiency or absence of an important enzyme called glucocerebrosidase, used to help breakdown a fatty substance in a specific area of certain cells.