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Article

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

Molecular genetics and metabolism - 1 Mar 2004

Huizing Marjan, Rakocevic Goran, Sparks Susan E, Mamali Ioanna, Shatunov Alexey, Goldfarb Lev, Krasnewich Donna, Gahl William A, Dalakas Marinos C

Abstract excerpt

Hereditary inclusion body myopathy (HIBM) is an adult onset neuromuscular disorder associated with mutations in the gene UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE), whose product is the rate limiting bi-functional enzyme catalyzing the first two steps of sialic acid biosynthesis. Loss of GNE activity in HIBM is thought to impair sialic acid production and interfere with proper...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14972325
DOI: 10.1016/j.ymgme.2003.11.012

Genes

GNE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.PMID 14972325Read ↗

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

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

Non-specific accumulation of glycosphingolipids in GNE myopathy.Semantic proximity Read ↗

Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.Semantic proximity Read ↗

Analysis of NCAM helps identify unusual phenotypes of 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 ↗

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.Semantic proximity Read ↗

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

Serum neural cell adhesion molecule is hyposialylated in hereditary inclusion body myopathy.Semantic proximity Read ↗

Hereditary inclusion-body myopathy with sparing of the quadriceps: the many tiles of an incomplete puzzle.Semantic proximity Read ↗

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.Semantic proximity Read ↗

GNE protein expression and subcellular distribution are unaltered in HIBM.Semantic proximity Read ↗

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