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Article

The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease.

Genes - 9 Dec 2022

Del Greco Christina, Antonellis Anthony

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are highly conserved essential enzymes that charge tRNA with cognate amino acids-the first step of protein synthesis. Of the 37 nuclear-encoded human ARS genes, 17 encode enzymes are exclusively targeted to the mitochondria (mt-ARSs). Mutations in nuclear mt-ARS genes are associated with rare, recessive human diseases with a broad range of clinical phenotypes. While the...

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Identifiers

PMID: 36553587
DOI: 10.3390/genes13122319
PMCID: PMC9777667

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