Ontology highlight
ABSTRACT:
SUBMITTER: Jasoliya M
PROVIDER: S-EPMC6546270 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Jasoliya Mittal M Sacca Francesco F Sahdeo Sunil S Chedin Frederic F Pane Chiara C Brescia Morra Vincenzo V Filla Alessandro A Pook Mark M Cortopassi Gino G
PloS one 20190603 6
Friedreich's Ataxia (FA) is an inherited neurodegenerative disorder resulting from decreased expression of the mitochondrial protein frataxin, for which there is no approved therapy. High throughput screening of clinically used drugs identified Dimethyl fumarate (DMF) as protective in FA patient cells. Here we demonstrate that DMF significantly increases frataxin gene (FXN) expression in FA cell model, FA mouse model and in DMF treated humans. DMF also rescues mitochondrial biogenesis deficiency ...[more]