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Article

No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.

Biochemical and biophysical research communications - 4 Mar 2005

Salama Ilan, Hinderlich Stephan, Shlomai Zipora, Eisenberg Iris, Krause Sabine, Yarema Kevin, Argov Zohar, Lochmuller Hanns, Reutter Werner, Dabby Ron, Sadeh Menachem, Ben-Bassat Hannah, Mitrani-Rosenbaum Stella

Abstract excerpt

Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult-onset, slowly progressive distal and proximal muscle weakness, which is caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme in the biosynthetic pathway of sialic acid. In order to investigate the consequences of the mutated GNE enzyme in muscle...

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Source

Identifiers

PMID: 15670773
DOI: 10.1016/j.bbrc.2004.12.157

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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No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.PMID 15670773Read ↗

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Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy.Semantic proximity Read ↗

Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions.Semantic proximity Read ↗

Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney CellsSemantic proximity Read ↗

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.Semantic proximity Read ↗

GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.Semantic proximity Read ↗

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

The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates.Semantic proximity Read ↗

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