Article
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
Cell research - 1 Jan 2018
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
Abstract excerpt
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 interacts with components of the SNARE complex and downregulates its formation. Loss-of-function mutant mice showed...
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