Article

A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations

2022-05-25

Abstract excerpt

<h4>ABSTRACT</h4> Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes that ligate tRNA molecules to their cognate amino acids. Heterozygosity for missense variants or small in-frame deletions in five ARS genes causes axonal peripheral neuropathy, a disorder characterized by impaired neuronal function in the distal extremities. These variants reduce enzyme activity without significantly...

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Literature Corpus work: 613cf123-b137-5169-8a2d-474dedca0325
DOI: 10.1101/2022.05.25.493316

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