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Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q(10) deficiency()

Human COQ6 encodes a monooxygenase which is responsible for the C5-hydroxylation of the quinone ring of coenzyme Q (CoQ). Mutations in COQ6 cause primary CoQ deficiency, a condition responsive to oral CoQ(10) supplementation. Treatment is however still problematic given the poor bioavailability of C...

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Detalles Bibliográficos
Autores principales:	Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Pub. Co 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898990/ https://www.ncbi.nlm.nih.gov/pubmed/24140869 http://dx.doi.org/10.1016/j.bbadis.2013.10.007

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