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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Detalles Bibliográficos
Autores principales: Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740244/
https://www.ncbi.nlm.nih.gov/pubmed/29296619
http://dx.doi.org/10.1002/acn3.486

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740244/
https://www.ncbi.nlm.nih.gov/pubmed/29296619
http://dx.doi.org/10.1002/acn3.486

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