John D. Cleary

This study tracks splicing index changes in DM1 patients over three years, finding worsening SI scores with variability among participants and associations with clinical phenotypes and baseline severity.

Quercetin reduces toxic RNA levels and rescues MBNL-dependent mis-splicing in DM1 and DM2 models.

Metformin reduces RAN proteins, improves splicing, and enhances behavioral and neuropathological outcomes in SCA8 BAC mice.

The paper identifies small molecules that reduce expanded CAG RNA abundance in SCA patient and mouse models, showing repeat-selective effects across multiple SCAs.

This study shows that deactivated Cas9 reduces RNA from expanded microsatellite repeats, improving disease-related outcomes in cellular models.