CORDIS Project
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This project investigates the molecular mechanisms behind recessive ataxias, focusing on the roles of frataxin and ABCb7 in mitochondrial iron-sulfur cluster biogenesis and neuronal dysfunction. It employs various scientific methods to understand these pathways and aims to identify potential therapeutic targets for tre…
The project aims at unraveling the molecular pathophysiology of recessive ataxias, a heterogeneous set of severely disabling neurodegenerative disorders due to loss of function of proteins involved either in mitochondrial/metabolic pathways or DNA repair.
Friedreich ataxia, the most common form, is due to partial loss of function of frataxin, a mitochondrial protein involved in iron-sulfur cluster (ISC) biogenesis.
Furthermore, the rare X-linked sideroblastic anemia with cerebellar ataxia is cau…
CENTRE EUROPEEN DE RECHERCHE EN BIOLOGIE ET MEDECINE
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