Dan Tang, Kaixuan Zheng, Jiangli Zhu, Xi Jin, Hui Bao, Lan Jiang, Huihui Li, Yichang Wang, Ying Lu, Jiaming Liu, Hang Liu, Chengbing Tang, Shijian Feng, Xiuju Dong, Liangting Xu, Yike Yin, Shangyu Dang, Xiawei Wei, Haiyan Ren, Biao Dong, Lunzhi Dai, Wei Cheng, Meihua Wan, Zhonghan Li, Jing Chen, Hong Li, Eryan Kong, Kunjie Wang, Kefeng Lu, Shiqian Qi
Massive GGGGCC (G4C2) repeat expansion in C9orf72 and the resulting loss of C9orf72 function are the key features of ~50% of inherited amyotrophic lateral sclerosis and frontotemporal dementia cases. However, the biological function of C9orf72 remains unclear. We previously found that C9orf72 can form a stable GTPase activating protein (GAP) complex with SMCR8 (Smith-Magenis chromosome region 8). Herein, we report that the C9orf72-SMCR8 complex is a major negative regulator of primary ciliogenesis, abnormalities in which lead to ciliopathies...
December 12, 2023: Proceedings of the National Academy of Sciences of the United States of America