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ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia

Summary: Ataxia-telangiectasia (A-T) is a hereditary neurodegenerative disorder caused by mutations in the ATM (ataxia-telangiectasia mutated) gene. Although existing rodent models reproduce some of the multi-systemic features of A-T, they notably fail to recapitulate the severe neurological manifes...

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Auteurs principaux: Kaiyu Xu, Ying Zhang, Yongxuan Chen, Xiaojia Zhu, Yu Li, Longbao Lv, Xiechao He, Zhengfei Hu, Yifan Li, Maosen Ye, Dewei Jiang, Zhanlong He, Weihua Jin, Yanyan Li, Xiaomei Yu, Deng-Feng Zhang, Karl Herrup, Ping Zheng, Yong-Gang Yao, Dong-Dong Wu, Jiali Li
Format: Artigo
Langue:Inglês
Publié: Elsevier 2025-09-01
Collection:Cell Reports Medicine
Sujets:
ataxia-telangiectasia
ATM deficiency
Nonhuman primate disease model
cerebellar atrophy
CRISPR-Cas9
magnetic resonance imaging, MRI
Accès en ligne:http://www.sciencedirect.com/science/article/pii/S2666379125004288
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