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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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| Main Authors: | , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
2007
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| Fag: | |
| Online adgang: | 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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