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Article

GNE protein expression and subcellular distribution are unaltered in HIBM.

Neurology - 14 Aug 2007

Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter M C, Argov Z, Mitrani-Rosenbaum S, Lochmüller H

Abstract excerpt

Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17698786
DOI: 10.1212/01.wnl.0000267426.97138.fd

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17698786-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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