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 ?
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 an autosomal recessive lysosomal disorder secondary to lack of the enzyme glucocerebrosidase, leading to the accumulation of glucocerebrosides in the cells of the reticuloendothelial system, causing hepatosplenomegaly.
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.
Gaucher disease is an autosomal recessive lysosomal glycosphingolipid storage disorder resulting from a deficiency of the lysosomal enzyme acid P-glucosidase (glucocerebrosidase).
The codon optimization of the human DNA sequence encoding glucocerebrosidase, a protein used to treat Gaucher disease, resulted in a 10.6-fold increase in the amount of protein expressed in P.
(10) Chitotriosidase is markedly increased in the plasma of patients with Gaucher disease, a rare genetic lysosomal storage disorder that is caused by a mutation in the glucocerebrosidase gene.
Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow.
Mutations in the gene encoding the lysosomal enzyme glucocerebrosidase confer the single strongest risk for developing Parkinson's disease of any gene that has been discovered, according to a multicenter analysis of patients from around the world.
Replacement therapy for inherited enzyme deficiency: use of purified glucocerebrosidase in gaucher disease.
Mutations in the enzyme glucocerebrosidase (GCase) cause Gaucher disease.
Gaucher disease, the most commonly diagnosed lysosomal storage disorder, is caused by inherited genetic mutations in the GBA gene, which result in deficient activity of the enzyme acid beta-glucosidase, also known as glucocerebrosidase (GCase).