A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation

Ataxia Telangiectasia (A-T) and Ataxia with Ocular Apraxia Type 1 (AOA1) are devastating neurological disorders caused by null mutations in the genome stability genes, A-T mutated (ATM) and Aprataxin (APTX), respectively. Our mechanistic understanding and therapeutic repertoire for treating these di...

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Hauptverfasser:	Harvey 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, Joaquin Madrenas, Michelina Iacovino, Peter J McKinnon, Paul J Mathews
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	eLife Sciences Publications Ltd 2021-11-01
Schriftenreihe:	eLife
Schlagworte:	Ataxia Telangiectasia cerebellum purkinje neurons ataxia thymus cancer
Online-Zugang:	https://elifesciences.org/articles/64695
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