Ontology highlight
ABSTRACT:
SUBMITTER: Herebian D
PROVIDER: S-EPMC5740244 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
Annals of clinical and translational neurology 20171017 12
The clinical phenotypes of human CoQ<sub>10</sub>-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 restores endogenous CoQ<sub>10</sub>-biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ<sub>10</sub>-biosynthesis-enzymes as well as a rescue of c ...[more]