PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
PLAA 突变通过破坏泛素介导的突触蛋白内溶酶体降解导致致命的婴儿癫痫性脑病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.03.008
Emma A Hall, Michael S Nahorski, Lyndsay M Murray, Ranad Shaheen, Emma Perkins, Kosala N Dissanayake, Yosua Kristaryanto, Ross A Jones, Julie Vogt, Manon Rivagorda, Mark T Handley, Girish R Mali, Tooba Quidwai, Dinesh C Soares, Margaret A Keighren, Lisa McKie, Richard L Mort, Noor Gammoh, Amaya Garc