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

1 Nov 2021

Abstract excerpt

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 disorders are severely lacking, in large part due to the failure of prior animal models with similar null...

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PMID: 34723800
DOI: 10.7554/elife.64695

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