Article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
The Journal of clinical investigation - 1 Mar 2007
Mollet Julie, Giurgea Irina, Schlemmer Dimitri, Dallner Gustav, Chretien Dominique, Delahodde Agnès, Bacq Delphine, de Lonlay Pascale, Munnich Arnold, Rötig Agnès
Abstract excerpt
Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS), as it distributes electrons among the various dehydrogenases and the cytochrome segments of the respiratory chain. We have identified 2 novel inborn errors of CoQ10 biosynthesis in 2 distinct families. In both cases, enzymologic studies showed that quinone-dependent OXPHOS activities were in the range of the lowest control values,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.