Article
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Biochimica et biophysica acta - 1 Jul 2012
Kovářová Nikola, Cížková Vrbacká Alena, Pecina Petr, Stránecký Viktor, Pronicka Ewa, Kmoch Stanislav, Houštěk Josef
Abstract excerpt
The loss of Surf1 protein leads to a severe COX deficiency manifested as a fatal neurodegenerative disorder, the Leigh syndrome (LS(COX)). Surf1 appears to be involved in the early step of COX assembly but its function remains unknown. The aim of the study was to find out how SURF1 gene mutations influence expression of OXPHOS and other pro-mitochondrial genes and to further characterize the altered COX assembly....
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