Alessandro Corbelli

AAV-mediated SIL1 gene therapy prevents cerebellar degeneration and ataxia in a mouse model of Marinesco-Sjögren syndrome by preserving Purkinje cells and reducing ER stress.

This study develops a C. elegans model expressing a human amyloidogenic light chain to study cardiac tropism in AL amyloidosis, finding pharyngeal impairment and oxidative stress similar to human cardiac disease.

This study shows that deleting calcineurin in astrocytes leads to proteome changes resembling Alzheimer's and epilepsy, and increases seizure risk in mice.