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Article

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons.

Human molecular genetics - 18 Feb 2024

Podmanicky Oliver, Gao Fei, Munro Benjamin, Jennings Matthew J, Boczonadi Veronika, Hathazi Denisa, Mueller Juliane S, Horvath Rita

Abstract excerpt

Mitochondrial aminoacyl-tRNA synthetase (mt-ARS) mutations cause severe, progressive, and often lethal diseases with highly heterogeneous and tissue-specific clinical manifestations. This study investigates the molecular mechanisms triggered by three different mt-ARS defects caused by biallelic mutations in AARS2, EARS2, and RARS2, using an in vitro model of human neuronal cells. We report distinct molecular...

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Identifiers

PMID: 37975900
DOI: 10.1093/hmg/ddad196
PMCID: PMC10877469

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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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