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Article

Human Sco1 functional studies and pathological implications of the P174L mutant.

Proceedings of the National Academy of Sciences of the United States of America - 2 Jan 2007

Banci Lucia, Bertini Ivano, Ciofi-Baffoni Simone, Leontari Iliana, Martinelli Manuele, Palumaa Peep, Sillard Rannar, Wang Shenlin

Abstract excerpt

The pathogenic mutant (P174L) of human Sco1 produces respiratory chain deficiency associated with cytochrome c oxidase (CcO) assembly defects. The solution structure of the mutant in its Cu(I) form shows that Leu-174 prevents the formation of a well packed hydrophobic region around the metal-binding site and causes a reduction of the affinity of copper(I) for the protein. K(D) values for Cu(I)WT-HSco1 and...

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Identifiers

PMID: 17182746
DOI: 10.1073/pnas.0606189103
PMCID: PMC1765425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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