Elia Di Schiavi

This study uses a C. elegans model to show that SMN-1 deficiency causes developmental and degenerative defects in motor and touch receptor neurons, suggesting conserved SMA pathology.

The paper identifies epigenetic modulators that rescue reproductive defects in CHARGE syndrome across species by targeting SEMA signaling pathways.

This study shows TGS1 is essential for snRNA 3' end processing and its loss causes neurodegeneration, which can be mitigated by human TGS1 expression in model organisms.