Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency
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چکیده
منابع مشابه
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 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 CoQ10 supplementation. Treatment is however still problematic given the poor bioavailability of CoQ10. We employed S. cerevisiae lacking the orthologous gene to characterize the two different huma...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2014
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2013.10.007