SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate

Loss-of-function mutations in sorting nexin 14 (SNX14) cause autosomal recessive spinocerebellar ataxia 20, which is a form of early-onset cerebellar ataxia that lacks molecular mechanisms and mouse models. We generated Snx14-deficient mouse models and observed severe motor deficits and cell-autonom...

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Detalles Bibliográficos
Autores principales: Zhang, Hongfeng, Hong, Yujuan, Yang, Weijie, Wang, Ruimin, Yao, Ting, Wang, Jian, Liu, Ke, Yuan, Huilong, Xu, Chaoqun, Zhou, Yuanyuan, Li, Guanxian, Zhang, Lishan, Luo, Hong, Zhang, Xian, Du, Dan, Sun, Hao, Zheng, Qiuyang, Zhang, Yun-Wu, Zhao, Yingjun, Zhou, Ying, Xu, Huaxi, Wang, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8310771/
https://www.ncbi.nlm.nih.gov/pubmed/34691693
http://dx.doi.org/10.1093/nsr/nwab024

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