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Article

Disease models of mitochondrial aminoacyl-tRNA synthetase defects.

Journal of inherited metabolic disease - 1 Sept 2023

Tyynismaa Henna

Abstract excerpt

Mitochondrial aminoacyl-tRNA synthetases (mtARS) are enzymes critical for the first step of mitochondrial protein synthesis by charging mitochondrial tRNAs with their cognate amino acids. Pathogenic variants in all 19 nuclear mtARS genes are now recognized as causing recessive mitochondrial diseases. Most mtARS disorders affect the nervous system, but the phenotypes range from multisystem diseases to...

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PMID: 37410890
DOI: 10.1002/jimd.12652

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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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