Article
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Clinical genetics - 1 Dec 2007
Tylki-Szymańska A, Czartoryska B, Vanier M-T, Poorthuis B J M H, Groener J A E, Ługowska A, Millat G, Vaccaro A M, Jurkiewicz E
Abstract excerpt
Gaucher disease is generally caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The degradation of glycosphingolipids requires also the participation of sphingolipid activator proteins. The prosaposin PSAP gene codes for a single protein which undergoes post-translational cleavage to yield four proteins named saposins A, B, C and D. Saposin (SAP-) C is required for glucosylceramide degradation,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.