Article
Glycation Interferes with the Activity of the Bi-Functional UDP-N-Acetylglucosamine 2-Epimerase/N-Acetyl-mannosamine Kinase (GNE).
Biomolecules - 23 Feb 2023
Hagenhaus Vanessa, Gorenflos López Jacob L, Rosenstengel Rebecca, Neu Carolin, Hackenberger Christian P R, Celik Arif, Weinert Klara, Nguyen Mai-Binh, Bork Kaya, Horstkorte Rüdiger, Gesper Astrid
Abstract excerpt
Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-onset disease with a yet unknown exact pathophysiology. Since the protein appears to work adequately for a certain period of time even though the mutation is already...
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