Gaucher disease: multiple lessons from a single gene disorder

Abstract excerpt

UNLABELLED: Gaucher disease is the most common lysosomal storage disease. It is caused by a deficiency in the lysosomal enzyme glucocerebrosidase, a beta-glucosidase, which results in the accumulation of the lipid glucocerebroside in macrophages throughout the body. Gaucher disease is most common in the Ashkenazi Jewish population, and three mutations of the gene encoding glucocerebrosidase (GBA) have been shown...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Calcium signaling and nucleotide metabolism
• Share to Glycogen Storage Diseases and Myoclonus
• Share to Lysosomal Storage Disorders Research