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- Tribouillard-Tanvier, Déborah, et al. Show all 12 Authors
- Biochimica et biophysica acta 2018 v.1859 no.8 pp. 602-611
- H+/K+-exchanging ATPase; H-transporting ATP synthase; adenosine triphosphate; asparagine; brain; eukaryotic cells; females; genes; glutamic acid; hydrogen bonding; kidney diseases; mitochondria; mitochondrial DNA; muscles; mutation; protons; serine; therapeutics; yeasts
- ... 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 pro ...