Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia - Lin, Xiang; Su, Hui-Zhen; Dong, En-Lin; Lin, Xiao-Hong; Zhao, Miao; Yang, Can; Wang, Chong; Wang, Jie; Chen, Yi-Jun; Yu, Hongjie; Xu, Jianfeng; Ma, Li-Xiang; et al. (Brain (London, England : 1878), 2019)
Keywords: Adolescent; Adult; Animals; Asian Continental Ancestry Group - genetics; Carrier Proteins - genetics; Child; Female; Humans; Male; Mice; Middle Aged; Mutation; Pedigree; Spastic Paraplegia, Hereditary - genetics; Zebrafish; neurodegeneration; ubiquitin-associated protein 1; early endosome; hereditary spastic paraplegia; ubiquitination