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Article

The role of aminoacyl-tRNA synthetases in genetic diseases.

Annual review of genomics and human genetics - 1 Jan 2008

Antonellis Anthony, Green Eric D

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for performing the first step of protein synthesis. Specifically, ARSs attach amino acids to their cognate tRNA molecules in the cytoplasm and mitochondria. Recent studies have demonstrated that mutations in genes encoding ARSs can result in neurodegeneration, raising many questions about the role of these enzymes (and...

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PMID: 18767960
DOI: 10.1146/annurev.genom.9.081307.164204

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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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