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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 and normal control subjects. Immunofluorescence detection of GNE did not reveal any mislocalization of GNE in skeletal...

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Methodology Data sources Editorial policy Privacy Delete account & data 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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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