Article
Elesclomol restores mitochondrial function in genetic models of copper deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 7 Aug 2018
Soma Shivatheja, Latimer Andrew J, Chun Haarin, Vicary Alison C, Timbalia Shrishiv A, Boulet Aren, Rahn Jennifer J, Chan Sherine S L, Leary Scot C, Kim Byung-Eun, Gitlin Jonathan D, Gohil Vishal M
Abstract excerpt
Copper is an essential cofactor of cytochrome c oxidase (CcO), the terminal enzyme of the mitochondrial respiratory chain. Inherited loss-of-function mutations in several genes encoding proteins required for copper delivery to CcO result in diminished CcO activity and severe pathologic conditions in affected infants. Copper supplementation restores CcO function in patient cells with mutations in two of these...
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