Alkaline Ceramidase 3 Deficiency Results in Purkinje Cell Degeneration and Cerebellar Ataxia Due to Dyshomeostasis of Sphingolipids in the Brain
碱性神经酰胺酶3缺乏症导致浦肯野细胞变性和小脑共济失调,这是由于脑内鞘脂稳态失衡所致。
期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1005591
Wang, Kai; Xu, Ruijuan; Schrandt, Jennifer; Shah, Prithvi; Gong, Yong Z; Preston, Chet; Wang, Louis; Yi, Jae Kyo; Lin, Chih-Li; Sun, Wei; Spyropoulos, Demetri D; Rhee, Soyoung; Li, Mingsong; Zhou, Jie; Ge, Shaoyu; Zhang, Guofeng; Snider, Ashley J; Hannun, Yusuf A; Obeid, Lina M; Mao, Cungui