A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency
Top Cited Papers
- 1 February 2006
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 78 (2), 345-349
- https://doi.org/10.1086/500092
Abstract
No abstract availableKeywords
This publication has 32 references indexed in Scilit:
- Chemotherapy induces an increase in coenzyme Q10 levels in cancer cell linesFree Radical Biology & Medicine, 2005
- Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive conditionNeurology, 2005
- Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutationNeurology, 2005
- Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQBiochemical Journal, 2004
- The Saccharomyces cerevisiae COQ6 Gene Encodes a Mitochondrial Flavin-dependent Monooxygenase Required for Coenzyme Q BiosynthesisPublished by Elsevier ,2003
- Mitochondrial Respiratory-Chain DiseasesNew England Journal of Medicine, 2003
- Coenzyme Q– responsive Leigh's encephalopathy in two sistersAnnals of Neurology, 2002
- Friedreich ataxia: a paradigm for mitochondrial diseasesCurrent Opinion in Genetics & Development, 2002
- Proteinuria in passive Heymann nephritis is associated with lipid peroxidation and formation of adducts on type IV collagen.Journal of Clinical Investigation, 1994
- Antioxidant effects of ubiquinones in microsomes and mitochondria are mediated by tocopherol recyclingBiochemical and Biophysical Research Communications, 1990