PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum

Mutations in the proline-rich transmembrane protein 2 (PRRT2) are associated with paroxysmal kinesigenic dyskinesia (PKD) and several other paroxysmal neurological diseases, but the PRRT2 function and pathogenic mechanisms remain largely obscure. Here we show that PRRT2 is a presynaptic protein that...

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書誌詳細
出版年:Cell Res
主要な著者: Tan, Guo-He, Liu, Yuan-Yuan, Wang, Lu, Li, Kui, Zhang, Ze-Qiang, Li, Hong-Fu, Yang, Zhong-Fei, Li, Yang, Li, Dan, Wu, Ming-Yue, Yu, Chun-Lei, Long, Juan-Juan, Chen, Ren-Chao, Li, Li-Xi, Yin, Lu-Ping, Liu, Ji-Wei, Cheng, Xue-Wen, Shen, Qi, Shu, You-Sheng, Sakimura, Kenji, Liao, Lu-Jian, Wu, Zhi-Ying, Xiong, Zhi-Qi
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2018
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5752836/
https://ncbi.nlm.nih.gov/pubmed/29056747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cr.2017.128
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