Article
Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.
Human mutation - 1 Jan 2018
Iommarini Luisa, Ghelli Anna, Leone Giulia, Tropeano Concetta Valentina, Kurelac Ivana, Amato Laura Benedetta, Gasparre Giuseppe, Porcelli Anna Maria
Abstract excerpt
Respiratory complex III (CIII) is the first enzymatic bottleneck of the mitochondrial respiratory chain both in its native dimeric form and in supercomplexes. The mammalian CIII comprises 11 subunits among which cytochrome b is central in the catalytic core, where oxidation of ubiquinol occurs at the Qo site. The Qo- or PEWY-motif of cytochrome b is the most conserved through species. Importantly, the highly...
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