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Article

Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

International journal of molecular sciences - 26 Apr 2021

Figuccia Sonia, Degiorgi Andrea, Ceccatelli Berti Camilla, Baruffini Enrico, Dallabona Cristina, Goffrini Paola

Abstract excerpt

In most eukaryotes, mitochondrial protein synthesis is essential for oxidative phosphorylation (OXPHOS) as some subunits of the respiratory chain complexes are encoded by the mitochondrial DNA (mtDNA). Mutations affecting the mitochondrial translation apparatus have been identified as a major cause of mitochondrial diseases. These mutations include either heteroplasmic mtDNA mutations in genes encoding for the...

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PMID: 33926074
DOI: 10.3390/ijms22094524
PMCID: PMC8123711

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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