Article
KCTD10 p.C124W variant contributes to schizophrenia by attenuating LLPS-mediated synapse formation.
Proceedings of the National Academy of Sciences of the United States of America - 26 Nov 2024
Mu Chenjun, Liu Pan, Liu Liang, Wang Yaqing, Liu Kefu, Li Xiangyu, Li Guozhong, Cheng Jianbo, Bu Mengyao, Chen Han, Tang Manpei, Yao Yuanhang, Guan Jun, Ma Tiantian, Zhou Zhengrong, Wu Qingfeng, Li Jiada, Guo Hui, Xia Kun, Hu Zhengmao, Peng Xiaoqing, Lang Bing, Li Faxiang, Chen Xiao-Wei, Xu Zhiheng, Yuan Ling
Abstract excerpt
KCTD10, a member of the potassium channel tetramerization domain (KCTD) family, is implicated in neuropsychiatric disorders and functions as a substrate recognition component within the RING-type ubiquitin ligase complex. A rare de novo variant of KCTD10, p.C124W, was identified in schizophrenia cases, yet its underlying pathogenesis remains unexplored. Here, we demonstrate that heterozygous KCTD10 C124W mice...
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