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Article

Gne depletion during zebrafish development impairs skeletal muscle structure and function.

Human molecular genetics - 1 Jul 2014

Daya Alon, Vatine Gad David, Becker-Cohen Michal, Tal-Goldberg Tzukit, Friedmann Adam, Gothilf Yoav, Du Shao Jun, Mitrani-Rosenbaum Stella

Abstract excerpt

GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by mutations in the GNE gene, which codes for the key enzyme in the metabolic pathway of sialic acid synthesis. The process by which GNE mutations lead to myopathy is not well understood. By in situ hybridization and gne promoter-driven fluorescent transgenic fish generation, we have characterized the spatiotemporal expression pattern of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24488768
DOI: 10.1093/hmg/ddu045

Genes

GNE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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