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Article

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

Biochimica et biophysica acta - 1 Jul 2012

Havlíčková Karbanová Vendula, Cížková Vrbacká Alena, Hejzlarová Kateřina, Nůsková Hana, Stránecký Viktor, Potocká Andrea, Kmoch Stanislav, Houštěk Josef

Abstract excerpt

Early onset mitochondrial encephalo-cardiomyopathy due to isolated deficiency of ATP synthase is frequently caused by mutations in TMEM70 gene encoding enzyme-specific ancillary factor. Diminished ATP synthase results in low ATP production, elevated mitochondrial membrane potential and increased ROS production. To test whether the patient cells may react to metabolic disbalance by changes in oxidative...

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Source

Identifiers

PMID: 22433607
DOI: 10.1016/j.bbabio.2012.03.004

Genes

TMEM70
SDS

Provenance

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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