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在PRRT2的膜域中发生的误解突变会影响其与Nav1.2电压接道的相互作用

Bruno Sterlini1, Francesca Franchi2, Lisastella Morinelli1

  • 1Department of Experimental Medicine, University of Genova, Viale Benedetto XV, 3, Genova 16132, Italy; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, Genova 16132, Italy.

Neurobiology of disease
|June 4, 2023
PubMed
概括

富含林的跨膜蛋白2 (PRRT2) 基因的突变通过改变与电压关闭通道 (Nav) 的相互作用来破坏神经元刺激性. 特定的PRRT2变异会导致功能丧失或功能增加,导致神经系统疾病.

关键词:
内在的兴奋能力 本质的兴奋能力分子动力学分子动力学帕洛克斯发作性中国性运动障碍症.富含林的跨膜蛋白-2 是一种富含林的跨膜蛋白.电压依赖的通道

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