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Article

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.

Physiological research - 31 Aug 2024

Tauchmannová K, Pecinová A, Houštěk J, Mráček T

Abstract excerpt

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalo-cardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are...

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Identifiers

PMID: 39016153
DOI: 10.33549/physiolres.935407
PMCID: PMC11412354

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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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