Article

The neuropathy-causing <i>GARS1</i> <sup> Δ <i>ETAQ</i> </sup> mutation drives pathology in subsets of motor and sensory neurons in mice

2026-07-09

Abstract excerpt

Charcot-Marie-Tooth disease type 2D (CMT2D) results from gain-of-function mutations in GARS1 , which encodes glycyl-tRNA synthetase (GlyRS), the enzyme responsible for charging transfer RNA (tRNA) with glycine. There are several CMT2D mouse models, but Gars Δ ETAQ /+ is the only one that bears a patient-sourced mutation. Created using CRISPR/Cas9 to model a 12-nucleotide de novo GARS1 deletion identified in a...

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Literature Corpus work: e3783d70-52b4-5811-ab9b-a8b3075bbac0
DOI: 10.64898/2026.07.05.736541

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