A novel, ataxic mouse model of Ataxia Telangiectasia caused by a clinically relevant nonsense mutation
H. Daniel Perez, May F. Abdallah, Jose I Chavira, Angelina S Norris, Martin T. Egeland, Karen L. Vo, Callan L Buechsenschuetz, Valentina Sanghez, Jeannie L Kim, Molly Pind, Kotoka Nakamura, Geoffrey G. Hicks, Richard A. Gatti, Joaquı́n Madrenas, Michelina Iacovino, , Paul J. Mathews
This paper describes a novel mouse model of Ataxia Telangiectasia with a nonsense mutation in Atm, showing ataxia, cerebellar defects, and potential therapeutic response to SMRT compounds.
eLife · Nov 1, 2021Peer-reviewedNeuroscience