Ontology highlight
ABSTRACT:
SUBMITTER: Freyer C
PROVIDER: S-EPMC4680133 | biostudies-literature | 2015 Nov
REPOSITORIES: biostudies-literature
Freyer Christoph C Stranneheim Henrik H Naess Karin K Mourier Arnaud A Felser Andrea A Maffezzini Camilla C Lesko Nicole N Bruhn Helene H Engvall Martin M Wibom Rolf R Barbaro Michela M Hinze Yvonne Y Magnusson Måns M Andeer Robin R Zetterström Rolf H RH von Döbeln Ulrika U Wredenberg Anna A Wedell Anna A
Journal of medical genetics 20150617 11
<h4>Background</h4>Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing.<h4>Methods</h4>We used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a novel ultra-pressure liquid chromatography-mass spectrometry approach to measure coenzyme Q ...[more]