Article
A strategy of microglia replacement alleviates microgliopathy in a CSF1R I794T hotspot mutation mouse model of CSF1R-related disorder.
Cell reports. Medicine - 17 Mar 2026
Li Xin, Hu Banglian, Wu Chujun, Wang Ziwei, Fan Hanzheng, Guan Xiaoyan, Xie Sulan, Chen Dadian, Huang Xiaohua, Sun Hao, Li Yanfang, Zhang Xian, Bu Guojun, Wang Zhanxiang, Zhang Yun-Wu, Zhong Li, Zhang Zaiqiang, Zheng Honghua
Abstract excerpt
The I794T hotspot mutation in the colony-stimulating factor 1 receptor (CSF1R) gene is associated with primary microgliopathy manifesting as leukoencephalopathy. In this study, we identify three Chinese probands harboring the CSF1R p.I794T variant and characterize their clinical and neuroimaging profiles. To elucidate disease mechanisms and explore therapeutic avenues, we generate a Csf1rI792T/+ knockin mouse...
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