DDX24 Mutation Alters NPM1 Phase Behavior and Disrupts Nucleolar Homeostasis in Vascular Malformations

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) reg...

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Detalles Bibliográficos
Autores principales: Zhang, Haopei, Chen, Qiuyue, Zhang, Qianqian, Gan, Hairun, Li, Hanjie, Chen, Shoudeng, Shan, Hong, Pang, Pengfei, He, Huanhuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496494/
https://www.ncbi.nlm.nih.gov/pubmed/37705750
http://dx.doi.org/10.7150/ijbs.84097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10496494/
https://www.ncbi.nlm.nih.gov/pubmed/37705750
http://dx.doi.org/10.7150/ijbs.84097

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