Ontology highlight
ABSTRACT:
SUBMITTER: Quinzii CM
PROVIDER: S-EPMC3545522 | biostudies-literature | 2013 Feb
REPOSITORIES: biostudies-literature
Quinzii Catarina M CM Garone Caterina C Emmanuele Valentina V Tadesse Saba S Krishna Sindu S Dorado Beatriz B Hirano Michio M
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20121112 2
Primary human CoQ(10) deficiencies are clinically heterogeneous diseases caused by mutations in PDSS2 and other genes required for CoQ(10) biosynthesis. Our in vitro studies of PDSS2 mutant fibroblasts, with <20% CoQ(10) of control cells, revealed reduced activity of CoQ(10)-dependent complex II+III and ATP synthesis, without amplification of reactive oxygen species (ROS), markers of oxidative damage, or antioxidant defenses. In contrast, COQ2 and ADCK3 mutant fibroblasts, with 30-50% CoQ(10) of ...[more]