Domain-specific regulation of PABPN1 uncouples aggregation from function and enables therapeutic rescue
Milad Shademan, Iolanda Vendrell, Alberto Malerba, s Khoshbash, Sarah Flannery, March, Geertje van der Horst, Silvère M. van der Maarel, Benedikt Mathias Kessler, Vered Raz
This study identifies a stabilized PABPN1 variant, trPAB, that reduces aggregation and restores function in OPMD and bladder cancer models, supporting its potential as a gene therapy.
bioRxiv · Jun 16, 2026 · PreprintNeuroscience