Title : Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Pub. Date : 2007 Jun

PMID : 17549255






1 Functional Relationships(s)
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1 Mutations in the key enzyme of sialic acid biosynthesis, uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine (ManNAc) kinase (GNE/MNK), result in hereditary inclusion body myopathy (HIBM), an adult-onset, progressive neuromuscular disorder. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Mus musculus