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

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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Bibliographic Details
Main Authors: 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: article
Language:EN
Published: eLife Sciences Publications Ltd 2021
Subjects:
Ataxia Telangiectasia
cerebellum
purkinje neurons
ataxia
thymus
cancer
Medicine
R
Science
Q
Biology (General)
QH301-705.5
Online Access:https://doaj.org/article/58f72a12e1074e83ad3fff4ba229dc94
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https://doaj.org/article/58f72a12e1074e83ad3fff4ba229dc94

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