Article
DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations.
International journal of biological sciences - 1 Jan 2023
Zhang Haopei, Chen Qiuyue, Zhang Qianqian, Gan Hairun, Li Hanjie, Chen Shoudeng, Shan Hong, Pang Pengfei, He Huanhuan
Abstract excerpt
Point mutations in the DEAD-box helicase DDX24 are associated with vascular malformations such as multi-organ venous and lymphatic defect (MOVLD) syndrome and Budd-Chiari syndrome, with the pathogenesis largely uncharacterized. DDX24 is mainly located in the nucleolus, where nucleophosmin (NPM1) regulates nucleolar homeostasis via liquid-liquid phase separation (LLPS). However, the connection between DDX24 and...
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