Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis

Abstract excerpt

The basic biochemical mechanisms underlying many heritable human polycystic diseases are unknown despite evidence that most cases are caused by mutations in members of several protein families, the most prominent being the polycystin gene family, whose products are found on the primary cilia, or due to mutations in posttranslational processing and transport. Inherited polycystic kidney disease, the most prevalent...

Topics

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

• Share to Genetic and Kidney Cyst Diseases
• Share to Genetic Syndromes and Imprinting
• Share to Pancreatic function and diabetes