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Article

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

Neurogenetics - 1 Nov 2012

Torraco Alessandra, Verrigni Daniela, Rizza Teresa, Meschini Maria Chiara, Vazquez-Memije Martha Elisa, Martinelli Diego, Bianchi Marzia, Piemonte Fiorella, Dionisi-Vici Carlo, Santorelli Filippo Maria, Bertini Enrico, Carrozzo Rosalba

Abstract excerpt

Mammalian complex V (F1F0-ATP synthase or ATPase) uses the proton gradient to generate ATP during oxidative phosphorylation and requires several helper proteins, including TMEM70, to form the holoenzyme in a stepwise process in which nuclear DNA is combined with mitochondrial DNA-encoded subunits. We report the clinical and molecular findings in three patients presenting lactic acidosis, 3-methylglutaconic...

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Source

Identifiers

PMID: 22986587
DOI: 10.1007/s10048-012-0343-8

Genes

TMEM70

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Related research

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Click a neighbor to travelStep 1 · 12 closest

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.PMID 22986587Read ↗

TMEM70 protein - a novel ancillary factor of mammalian 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 ↗

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

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

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

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.Semantic proximity Read ↗

A dual function of TMEM70 in OXPHOS: assembly of complexes I and VSemantic proximity Read ↗

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

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

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

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