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Amygdalin (Laetrile) is a toxic drug that is not effective as a cancer treatment". Additionally, "No controlled clinical trials (trials that compare groups of patients who receive the new treatment to groups who do not) of laetrile have been reported." [24] The side effects of laetrile treatment are the symptoms of cyanide poisoning.
The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45 ) on the first chromosome (1q22). The enzyme is a 55.6- kilodalton , 497- amino acid -long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells .
β-Glucosidase (EC 3.2.1.21; systematic name β-D-glucoside glucohydrolase) is an enzyme that catalyses the following reaction: [2] Hydrolysis of terminal, non-reducing β- D -glucosyl residues with release of β- D -glucose
Beta-glucosidase # EC 3.2.1.21 : is associated with Gaucher's disease: Lactase: EC 3.2.1.23 : one member of the β-galactosidase family, breaks down milk sugars, and its absence in adulthood causes lactose intolerance: Debranching enzyme # EC 3.2.1.33: in mammals, yeast and some bacteria, combines transferase and glucosidase activity in ...
Eliglustat, sold under the brand name Cerdelga, is a medication used for the treatment of Gaucher's disease. It was discovered at the University of Michigan, developed by Genzyme Corp, and was approved by the FDA in August 2014. [7] Commonly used as the tartrate salt, the compound is believed to work by inhibition of glucosylceramide synthase.
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
Afegostat (INN; also known as isofagomine; planned trade name Plicera) was an experimental drug for the treatment of certain forms of Gaucher's disease that was being developed by Amicus Therapeutics and Shire plc until a failed clinical trial in 2009 led to termination of its development.
n/a Ensembl ENSG00000249948 n/a UniProt Q9H227 n/a RefSeq (mRNA) NM_001128432 NM_001277225 NM_020973 n/a RefSeq (protein) NP_001121904 NP_001264154 NP_066024 n/a Location (UCSC) Chr 4: 22.69 – 22.82 Mb n/a PubMed search n/a Wikidata View/Edit Human Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase (EC 3.2.1.21) enzyme that in humans is ...