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A pathogenic mutation in cytochrome c oxidase results in impaired proton pumping while retaining O(2)-reduction activity

In this work we have investigated the effect of a pathogenic mitochondrial DNA mutation found in human colon cells, at a functional-molecular level. The mutation results in the amino-acid substitution Tyr19His in subunit I of the human CytcO and it is associated with respiratory deficiency. It was i...

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Pubblicato in:Biochim Biophys Acta
Autori principali: Namslauer, Ida, Lee, Hyun Ju, Gennis, Robert B., Brzezinski, Peter
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4309374/
https://ncbi.nlm.nih.gov/pubmed/20117076
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbabio.2010.01.027
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