Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

Abstract excerpt

A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is enriched in the Finnish population, where 98% of AGU alleles contain one founder mutation, AGU(Fin). Elsewhere in the world, we and others have described 18 different sporadic AGU mutations. Many of these are predicted to interfere with the complex...

Topics

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

• Share to Cell Line, Transformed
• Share to Fluorescent Antibody Technique