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Article

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.

Biochimica et biophysica acta - 1 May 2009

Houstek Josef, Kmoch Stanislav, Zeman Jirí

Abstract excerpt

An increasing number of patients with nuclear genetic defects of mitochondrial ATP synthase have been identified in recent years. They are characterized by early onset, lactic acidosis, 3-methylglutaconic aciduria, hypertrophic cardiomyopathy and encephalopathy and most cases have a fatal outcome...

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Source

Identifiers

PMID: 19103153
DOI: 10.1016/j.bbabio.2008.11.013

Genes

TMEM70

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19103153-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.PMID 19103153Read ↗

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.Semantic proximity Read ↗

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.Semantic proximity Read ↗

TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme.Semantic proximity Read ↗

Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.Semantic proximity Read ↗

Nuclear genetic defects of mitochondrial ATP synthase.Semantic proximity Read ↗

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.Semantic proximity Read ↗

Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.Semantic proximity Read ↗

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.Semantic proximity Read ↗

TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting <i>in situ</i> assembly of mammalian ATP synthase proton channelSemantic proximity Read ↗

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

Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.Semantic proximity Read ↗

Mitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approaches.Semantic proximity Read ↗

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