Article
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.
The Journal of clinical investigation - 16 Sept 2025
Ji Lei, Yan Jin, Losurdo Nicole A, Wang Hua, Liu Liangjie, Li Keyi, Liu Zhen, Guo Zhenming, Xu Jing, Bibo Adriana, Ren Decheng, Yang Ke, Luo Yingying, Yang Fengping, Wang Gui, Xiang Zhenglong, Wang Yuan, Zhan Huaizhe, Pan Hu, Hu Juanli, Zhong Jianmin, Abou Jamra Rami, Zacher Pia, Musante Luciana, Faletra Flavio, Costa Paola, Zanus Caterina, Couque Nathalie, Ruaud Lyse, Cueto-González Anna M, San Nicolas Fernández Hector, Tizzano Eduardo, Martinez Gil Nuria, Liu Xiaorong, Liao Weiping, Abi Farraj Layal, Huang Alden Y, Zhang Liying, Murali Aparna, Schmuel Esther, Han Christina S, King Kayla, Gu Weiyue, Wang Pengchao, Li Kai, Link Nichole, He Guang, Bian Shan, Mao Xiao
Abstract excerpt
The spliceosome is a critical cellular machinery responsible for pre-mRNA splicing that is essential for the proper expression of genes. Mutations in its core components are increasingly linked to neurodevelopmental disorders, such as primary microcephaly. Here, we investigated the role of SNW domain-containing protein 1 (SNW1), a spliceosomal protein, in splicing integrity and neurodevelopment. We identified 9...
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