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Mitochondrial ATP synthase 8 single-nucleotide polymorphism affects oxidative stress and survival of mice.

Pflugers Archiv : European journal of physiology - 1 Dec 2025

Reichart Gesine, Mayer Johannes, Tokay Tursonjan, Kirschstein Timo, Lange Falko, Köhling Rüdiger

Abstract excerpt

Single-nucleotide polymorphisms in mitochondrial DNA (mtDNA) encoded genes of respiratory chain complexes are known to be associated with severe diseases and life-threatening syndromes. In the assembly of the ATP synthase, the enzyme that in the final steps of oxidative phosphorylation generates ATP from ADP and inorganic phosphate, two subunits (ATP6 and ATP8) are mtDNA-encoded. In our study, we investigated the...

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PMID: 40973849
DOI: 10.1007/s00424-025-03123-2
PMCID: PMC12640345

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