The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

Cytochrome b is the only mtDNA-encoded subunit of the mitochondrial complex III (CIII), the functional bottleneck of the respiratory chain. Previously, the human cytochrome b missense mutation m.15579A>G, which substitutes the Tyr 278 with Cys (p.278Y>C), was identified in a patient with sever...

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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Ghelli, Anna, Tropeano, Concetta V., Calvaruso, Maria Antonietta, Marchesini, Alessandra, Iommarini, Luisa, Porcelli, Anna Maria, Zanna, Claudia, De Nardo, Vera, Martinuzzi, Andrea, Wibrand, Flemming, Vissing, John, Kurelac, Ivana, Gasparre, Giuseppe, Selamoglu, Nur, Daldal, Fevzi, Rugolo, Michela
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Oxford University Press 2013
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3652418/
https://ncbi.nlm.nih.gov/pubmed/23418307
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt067
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