Article

Comprehensive assessment of recessive, pathogenic <i>AARS1</i> alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects

2024-06-24

Abstract excerpt

<h4>ABSTRACT</h4> Alanyl-tRNA synthetase 1 ( AARS1 ) encodes the enzyme that ligates tRNA molecules to alanine in the cytoplasm, which is required for protein translation. Variants in AARS1 have been implicated in early-onset, multi-system recessive phenotypes and in later-onset dominant peripheral neuropathy; to date, no single variant has been associated with both dominant and recessive diseases raising quest...

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Literature Corpus work: 6ee79359-b358-535c-ba08-c2e21d460a21
DOI: 10.1101/2024.06.20.599900

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