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Article

Effects of a homozygous missense mutation in the GNE gene p.V543M on cell phenotype and its mechanisms.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 28 Jan 2025

Wu Ruolan, Li Huilong, Wu Pingyun, Yang Qi, Wan Xueting, Wu Yuan

Abstract excerpt

OBJECTIVES: Uridine diphospho-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) myopathy is a progressive neurodegenerative disease associated with homozygous or compound heterozygous missense mutations in the GNE gene. This study aims to explore the impact of the homozygous p.V543M mutation in on cell phenotype and to gain preliminary insights into the underlying mechanisms. METHODS: Human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40457796
DOI: 10.11817/j.issn.1672-7347.2025.240287
PMCID: PMC13345997

Genes

GNE
CCK

Variants

Provenance

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