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4‐Hydroxybenzoic acid restores CoQ(10) biosynthesis in human COQ2 deficiency

The clinical phenotypes of human CoQ(10)‐deficiency caused by COQ2 mutations range from fatal neonatal disease to adult‐onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4‐hydroxybenzoic acid (4‐HBA) fully restore...

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Bibliografiset tiedot
Julkaisussa:Ann Clin Transl Neurol
Päätekijät: Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: John Wiley and Sons Inc. 2017
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5740244/
https://ncbi.nlm.nih.gov/pubmed/29296619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.486
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