Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.
Gaurav Sharma, Martina Paganin, Yu-Ting Huang, Elena Perenthaler, Ilaria Signoria, Kiterie M. E. Faller, Federica Maniscalco, Cecilia Perrucci, Deborah Donzel, Helena Chaytow, Manuela Basso, Fabio Lauria, Rashmi Kothary, W. Ludo van der Pol, Peter Claus, , Gabriella Viero
The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.
bioRxiv · Jun 3, 2025 · PreprintMolecular Biology