Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

BACKGROUND: 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. METHODS: We used whole...

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Veröffentlicht in:J Med Genet
Hauptverfasser: Freyer, Christoph, Stranneheim, Henrik, Naess, Karin, Mourier, Arnaud, Felser, Andrea, Maffezzini, Camilla, Lesko, Nicole, Bruhn, Helene, Engvall, Martin, Wibom, Rolf, Barbaro, Michela, Hinze, Yvonne, Magnusson, Måns, Andeer, Robin, Zetterström, Rolf H, von Döbeln, Ulrika, Wredenberg, Anna, Wedell, Anna
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2015
Schlagworte:
Therapeutics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4680133/
https://ncbi.nlm.nih.gov/pubmed/26084283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-102986
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