Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice
Amrutha Pattamatta, Lien Nguyen, Hailey R. Olafson, Marina M. Scotti, Lauren A. Laboissonniere, Jared I. Richardson, J. Andrew Berglund, Tao Zu, Eric T. Wang, Laura P.W. Ranum
This study shows longer G4C2 repeats in C9orf72 transgenic mice lead to earlier disease onset, higher penetrance, and more RNA foci, with alternative splicing changes as early biomarkers.
Human Molecular Genetics · Dec 15, 2020Peer-reviewedNeuroscience