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Article

Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.

Journal of inherited metabolic disease - 1 Jul 2021

Ni Min, Black Lauren F, Pan Chunxiao, Vu Hieu, Pei Jimin, Ko Bookyung, Cai Ling, Solmonson Ashley, Yang Chendong, Nugent Kimberly M, Grishin Nick V, Xing Chao, Roeder Elizabeth, DeBerardinis Ralph J

Abstract excerpt

Glutamyl-tRNA synthetase 2 (encoded by EARS2) is a mitochondrial aminoacyl-tRNA synthetase required to translate the 13 subunits of the electron transport chain encoded by the mitochondrial DNA. Pathogenic EARS2 variants cause combined oxidative phosphorylation deficiency, subtype 12 (COXPD12), an autosomal recessive disorder involving lactic acidosis, intellectual disability, and other features of mitochondrial...

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Identifiers

PMID: 33855712
DOI: 10.1002/jimd.12387
PMCID: PMC9219168

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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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