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Human Sco1 functional studies and pathological implications of the P174L mutant

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...

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Hlavní autoři: Banci, Lucia, Bertini, Ivano, Ciofi-Baffoni, Simone, Leontari, Iliana, Martinelli, Manuele, Palumaa, Peep, Sillard, Rannar, Wang, Shenlin
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1765425/
https://ncbi.nlm.nih.gov/pubmed/17182746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0606189103
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