Ontology highlight
ABSTRACT:
SUBMITTER: Benini M
PROVIDER: S-EPMC5329121 | biostudies-literature | 2017 Feb
REPOSITORIES: biostudies-literature
Benini Monica M Fortuni Silvia S Condò Ivano I Alfedi Giulia G Malisan Florence F Toschi Nicola N Serio Dario D Massaro Damiano Sergio DS Arcuri Gaetano G Testi Roberto R Rufini Alessandra A
Cell reports 20170201 8
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the severity of the disease; thus, attempts to restore physiological frataxin levels are considered therapeutically relevant. Frataxin levels are controlled by the ubiquitin-proteasome system; therefore, inhibition of the frataxin E3 ligase may represent a ...[more]