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Article

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

Biochemistry - 7 Mar 2006

Penner Juliane, Mantey Lars R, Elgavish Sharona, Ghaderi Darius, Cirak Sebahattin, Berger Markus, Krause Sabine, Lucka Lothar, Voit Thomas, Mitrani-Rosenbaum Stella, Hinderlich Stephan

Abstract excerpt

Hereditary inclusion body myopathy (HIBM), a neuromuscular disorder, is caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of sialic acid biosynthesis. To date, more than 40 different mutations in the GNE gene have been reported to cause the disease. Ten of them, representing mutations in both functional domains of GNE, were recombinantly expressed in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16503651
DOI: 10.1021/bi0522504

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.PMID 16503651Read ↗

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

Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.Semantic proximity Read ↗

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Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Semantic proximity Read ↗

Biochemical characterization of the M712T-mutation of the UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosaminekinase in hereditary inclusion body myopathy.Semantic proximity Read ↗

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.Semantic proximity Read ↗

Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.Semantic proximity Read ↗

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Semantic proximity Read ↗

Crystal structure of the N-acetylmannosamine kinase domain of GNE.Semantic proximity Read ↗

Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.Semantic proximity Read ↗

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.Semantic proximity Read ↗

Mutation update for GNE gene variants associated with GNE myopathy.Semantic proximity Read ↗

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