Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.
ATG5 基因突变会降低自噬作用,导致共济失调和发育迟缓
期刊:Elife
影响因子:6.4
doi:10.7554/eLife.12245
Kim Myungjin, Sandford Erin, Gatica Damian, Qiu Yu, Liu Xu, Zheng Yumei, Schulman Brenda A, Xu Jishu, Semple Ian, Ro Seung-Hyun, Kim Boyoung, Mavioglu R Nehir, Tolun Aslıhan, Jipa Andras, Takats Szabolcs, Karpati Manuela, Li Jun Z, Yapici Zuhal, Juhasz Gabor, Lee Jun Hee, Klionsky Daniel J, Burmeister Margit