Christopher R. Trotta

This study shows that U1C and Helix H of U1 snRNA are essential for branaplam's effect on weak 5 splice site recognition, while risdiplam requires additional factors for activity.

Discovery of SMCs that correct MAPT splicing, reduce 4R tau, and rescue pathology in patient-derived neuronal and in vivo models of 4R tauopathies.

The paper uses deep learning to identify new gene targets for a splicing modulator drug, validating predictions with in vitro assays.