Pamela Santonicola

A Spinal Muscular Atrophy Model Reveals Both Developmental and Degenerative Neuronal Defects in C. elegans

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.

Integrated CHARGE syndrome models reveal epigenetic modulators of reproductive phenotypes

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

TGS1 controls snRNA 3' end processing, prevents neurodegeneration and ameliorates SMN-dependent neurological phenotypes in vivo

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.