We identified in murine Purkinje cells a specific interaction of sacsin with proteins regulating transmembrane ion balance, which are required for tuning the firing properties of these neurons. Our functional studies support a deregulation of ion conductance in Sacs-/- Purkinje cells compared to controls. By complementary approaches in vivo et ex vivo, the project aims at dissecting and targeting defects in this pathway, to understand their contribution to the ataxic phenotype observed in ARSACS. The final aim is the identification of new valuable targets for therapeutic intervention.
Grant : $100,000 Duration: One year Contact:
Dr. Francesca Maltecc
Universita Vita-Salute San Raffaele
Via Olgettina 60 20132 Milan, Italy
maltecca.francesca@hsr.it