We discovered that sacsin specifically localizes at the post-synaptic density of the cerebellum, where it controls key proteins involved in synapse organization and trans-synaptic signaling, required for tuning the firing properties of Purkinje cells. The project aims at defining how defects in this pathway can influence Purkinje cell-spine functionality and firing, contributing to the motor coordination defects observed in ARSACS. This study may identify new valuable targets for therapeutic intervention.
Duration : one year
Dr. Francesca Maltecca
Ospedale San Raffaele
Via Olgettina 58,20132, Milan, Italy