Article
The metabolism of glucocerebrosides - From 1965 to the present.
Molecular genetics and metabolism - 1 Jan 2000
Futerman Anthony H, Platt Frances M
Abstract excerpt
Gaucher disease is caused by the defective catabolism of the simple glycosphingolipid, glucosylceramide (GlcCer), due to mutations in the GBA1 gene which encodes for acid β-glucosidase (GCase), the lysosomal enzyme that degrades GlcCer. Today, Gaucher disease patients are routinely treated with recombinant GCase, in a treatment regimen known as enzyme replacement therapy (ERT). We now review the biochemical basis...
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