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Article

Human disease-related mutations in cytochrome b studied in yeast.

The Journal of biological chemistry - 26 Mar 2004

Fisher Nicholas, Castleden C Kate, Bourges Ingrid, Brasseur Gael, Dujardin Genevieve, Meunier Brigitte

Abstract excerpt

Several mutations in the mitochondrially encoded cytochrome b have been reported in patients. To characterize their effect, we introduced six "human" mutations, namely G33S, S152P, G252D, Y279C, G291D, and Delta252-259 in the highly similar yeast cytochrome b. G252D showed wild type behavior in standard conditions. However, Asp-252 may interfere with structural lipid and, in consequence, destabilize the enzyme...

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PMID: 14718526
DOI: 10.1074/jbc.M313866200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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