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Article

Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.

The FEBS journal - 1 Jan 2021

Mullen Patrick, Abbott Jamie A, Wellman Theresa, Aktar Mahafuza, Fjeld Christian, Demeler Borries, Ebert Alicia M, Francklyn Christopher S

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) encompasses a set of genetically and clinically heterogeneous neuropathies characterized by length-dependent dysfunction of the peripheral nervous system. Mutations in over 80 diverse genes are associated with CMT, and aminoacyl-tRNA synthetases (ARS) constitute a large gene family implicated in the disease. Despite considerable efforts to elucidate the mechanistic link between...

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Identifiers

PMID: 32543048
DOI: 10.1111/febs.15449
PMCID: PMC7736457

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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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