Matches in SemOpenAlex for { <https://semopenalex.org/work/W2795499467> ?p ?o ?g. }
- W2795499467 abstract "Devastating human neuromuscular disorders have been associated to defects in the ATP synthase. This enzyme is found in the inner mitochondrial membrane and catalyzes the last step in oxidative phosphorylation, which provides aerobic eukaryotes with ATP. With the advent of structures of complete ATP synthases, and the availability of genetically approachable systems such as the yeast Saccharomyces cerevisiae, we can begin to understand these molecular machines and their associated defects at the molecular level. In this review, we describe what is known about the clinical syndromes induced by 58 different mutations found in the mitochondrial genes encoding membrane subunits 8 and a of ATP synthase, and evaluate their functional consequences with respect to recently described cryo-EM structures." @default.
- W2795499467 created "2018-04-13" @default.
- W2795499467 creator A5000569808 @default.
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- W2795499467 creator A5043584736 @default.
- W2795499467 creator A5083819729 @default.
- W2795499467 date "2018-04-04" @default.
- W2795499467 modified "2023-10-10" @default.
- W2795499467 title "ATP Synthase Diseases of Mitochondrial Genetic Origin" @default.
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