Article
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice.
Human molecular genetics - 1 Nov 2016
Vrbacký Marek, Kovalčíková Jana, Chawengsaksophak Kallayanee, Beck Inken M, Mráček Tomáš, Nůsková Hana, Sedmera David, Papoušek František, Kolář František, Sobol Margarita, Hozák Pavel, Sedlacek Radislav, Houštěk Josef
Abstract excerpt
TMEM70, a 21-kDa protein localized in the inner mitochondrial membrane, has been shown to facilitate the biogenesis of mammalian F1Fo ATP synthase. Mutations of the TMEM70 gene represent the most frequent cause of isolated ATP synthase deficiency resulting in a severe mitochondrial disease presenting as neonatal encephalo-cardiomyopathy (OMIM 604273). To better understand the biological role of this factor, we...
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