Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Abstract excerpt

Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid glucocerebroside to ceramide and glucose. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystemic manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system....

Topics

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

• Share to Biological Evolution
• Share to Cellular transport and secretion