Article
Molecular basis of diseases caused by the mtDNA mutation m.8969G>A in the subunit a of ATP synthase.
Biochimica et biophysica acta. Bioenergetics - 1 Aug 2018
Skoczeń Natalia, Dautant Alain, Binko Krystyna, Godard François, Bouhier Marine, Su Xin, Lasserre Jean-Paul, Giraud Marie-France, Tribouillard-Tanvier Déborah, Chen Huimei, di Rago Jean-Paul, Kucharczyk Roza
Abstract excerpt
The ATP synthase which provides aerobic eukaryotes with ATP, organizes into a membrane-extrinsic catalytic domain, where ATP is generated, and a membrane-embedded FO domain that shuttles protons across the membrane. We previously identified a mutation in the mitochondrial MT-ATP6 gene (m.8969G>A) in a 14-year-old Chinese female who developed an isolated nephropathy followed by brain and muscle problems. This...
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