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Article

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.

Human molecular genetics - 1 Aug 2015

Grice Stuart J, Sleigh James N, Motley William W, Liu Ji-Long, Burgess Robert W, Talbot Kevin, Cader M Zameel

Abstract excerpt

Charcot-Marie-Tooth (CMT) neuropathies are collectively the most common hereditary neurological condition and a major health burden for society. Dominant mutations in the gene GARS, encoding the ubiquitous enzyme, glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and lead to CMT disease type 2D. This genetic disorder exemplifies a recurring motif in neurodegeneration, whereby mutations in...

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Identifiers

PMID: 25972375
DOI: 10.1093/hmg/ddv176
PMCID: PMC4492401

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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.

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Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.PMID 25972375Read ↗

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