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Article

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

Biochimica et biophysica acta - 1 May 2010

Namslauer Ida, Lee Hyun Ju, Gennis Robert B, Brzezinski Peter

Abstract excerpt

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 wa...

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Identifiers

PMID: 20117076
DOI: 10.1016/j.bbabio.2010.01.027
PMCID: PMC4309374

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20117076-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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