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Article

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

Nature - 29 Oct 2015

He Weiwei, Bai Ge, Zhou Huihao, Wei Na, White Nicholas M, Lauer Janelle, Liu Huaqing, Shi Yi, Dumitru Calin Dan, Lettieri Karen, Shubayev Veronica, Jordanova Albena, Guergueltcheva Velina, Griffin Patrick R, Burgess Robert W, Pfaff Samuel L, Yang Xiang-Lei

Abstract excerpt

Selective neuronal loss is a hallmark of neurodegenerative diseases, which, counterintuitively, are often caused by mutations in widely expressed genes. Charcot-Marie-Tooth (CMT) diseases are the most common hereditary peripheral neuropathies, for which there are no effective therapies. A subtype of these diseases--CMT type 2D (CMT2D)--is caused by dominant mutations in GARS, encoding the ubiquitously expressed...

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Identifiers

PMID: 26503042
DOI: 10.1038/nature15510
PMCID: PMC4754353

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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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