Article

Glycyl-tRNA sequestration is a unifying mechanism underlying <i>GARS1</i> -associated peripheral neuropathy

2024-10-12

Abstract excerpt

<h4>ABSTRACT</h4> Dominantly inherited mutations in eight cytosolic aminoacyl-tRNA synthetase genes cause hereditary motor and sensory neuropathy, characterized by degeneration of peripheral motor and sensory axons. We previously identified a pathogenic gain-of-toxic function mechanism underlying peripheral neuropathy (PN) caused by heterozygous mutations in the GARS1 gene, encoding glycyl-tRNA synthetase (GlyRS...

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Literature Corpus work: e466175f-773a-5382-b02f-c0005f292844
DOI: 10.1101/2024.10.11.617948

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