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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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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier Pub. Co
2014
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3898990/ https://ncbi.nlm.nih.gov/pubmed/24140869 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2013.10.007 |
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