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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Detalles Bibliográficos
Autores principales: Perez, Harvey, Abdallah, May F, Chavira, Jose I, Norris, Angelina S, Egeland, Martin T, Vo, Karen L, Buechsenschuetz, Callan L, Sanghez, Valentina, Kim, Jeannie L, Pind, Molly, Nakamura, Kotoka, Hicks, Geoffrey G, Gatti, Richard A, Madrenas, Joaquin, Iacovino, Michelina, McKinnon, Peter J, Mathews, Paul J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8601662/
https://www.ncbi.nlm.nih.gov/pubmed/34723800
http://dx.doi.org/10.7554/eLife.64695

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8601662/
https://www.ncbi.nlm.nih.gov/pubmed/34723800
http://dx.doi.org/10.7554/eLife.64695

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