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Non-specific accumulation of glycosphingolipids in GNE myopathy.

J. Inherit. Metab. Dis.. 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 Ter

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Proteins, Expression, Isolation and Analysis	Total protein extracts (20 μg) were mixed with 5X sample loading buffer for SDS PAGE (GenScript, Piscataway, NJ), boiled at 95 °C for 5 min , and loaded on to 4–12 % Tris-G lyc ine ge ls (Invitrogen), followed by electroblotting onto nitrocellulose membranes (Invitrogen).	Get A Quote

摘要

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 of sialic acid synthesis and muscle pathology in GNE myopathy remains poorly understood.