Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ 10 deficiency
Open Access
- 29 January 2008
- journal article
- research article
- Published by Wiley in The FASEB Journal
- Vol. 22 (6), 1874-1885
- https://doi.org/10.1096/fj.07-100149
Abstract
Coenzyme Q10 (CoQ10) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. Last year, we re ported the first mutations in CoQ10 biosynthetic genes, COQ2,...Keywords
Funding Information
- National Institutes of Health (NS‐11766, HD‐32062)
- Muscular Dystrophy Association
This publication has 51 references indexed in Scilit:
- Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2007
- Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disordersJournal of Clinical Investigation, 2007
- Mutations in coenzyme Q10 biosynthetic genesJournal of Clinical Investigation, 2007
- Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphateProceedings of the National Academy of Sciences, 2006
- Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) MutationsAmerican Journal of Human Genetics, 2006
- Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathyThe FEBS Journal, 2005
- Coenzyme Q and the regulation of intracellular steady‐state levels of superoxide in HL‐60 cellsBioFactors, 2005
- Mitochondrial formation of reactive oxygen speciesThe Journal of Physiology, 2003
- Nonviability of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblastsBiochemical Medicine and Metabolic Biology, 1992
- Effect of ubiquinone extraction on ubiquinol-1 oxidase activity in beef heart mitochondriaJournal of Bioenergetics and Biomembranes, 1981