Human genetic disorders of sphingolipid biosynthesis.

Abstract excerpt

Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite...

Topics

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

• Share to Paraplegia
• Share to Ataxia
• Share to Disease Models, Animal