Article
Non-specific accumulation of glycosphingolipids in GNE myopathy.
Journal of inherited metabolic disease - 1 Mar 2014
Patzel Katherine A, Yardeni Tal, Le Poëc-Celic Erell, Leoyklang Petcharat, Dorward Heidi, Alonzi Dominic S, Kukushkin Nikolay V, Xu Bixue, Zhang Yongmin, Sollogoub Matthieu, Blériot Yves, Gahl William A, Huizing Marjan, Butters Terry D
Abstract excerpt
BACKGROUND: UDP-GlcNAc 2-epimerase/ManNAc 6-kinase (GNE) is a bifunctional enzyme responsible for the first committed steps in the synthesis of sialic acid, a common terminal monosaccharide in both protein and lipid glycosylation. GNE mutations are responsible for a rare autosomal recessive neuromuscular disorder, GNE myopathy (also called hereditary inclusion body myopathy). The connection between the impairment...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.