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Article

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Glycobiology - 1 Mar 2010

Kurochkina Natalya, Yardeni Tal, Huizing Marjan

Abstract excerpt

The bifunctional enzyme UDP-GlcNAc 2-epimerase/ ManNAc kinase (GNE/MNK), encoded by the GNE gene, catalyzes the first two committed, rate-limiting steps in the biosynthesis of N-acetylneuraminic acid (sialic acid). GNE/MNK is feedback inhibited by binding of the downstream product, CMP-sialic acid in its allosteric site. GNE mutations can result in two human disorders, hereditary inclusion body myopathy (HIBM) or...

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Identifiers

PMID: 19917666
DOI: 10.1093/glycob/cwp176
PMCID: PMC2815652

Genes

GNE

Variants

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