Aberrant phase separation:linking IDR mutations to disease  

作　　者：Rashik Ahmed Julie D.Forman-Kay 

机构地区：[1]Program in Molecular Medicine,The Hospital for Sick Children,Toronto,ON,Canada [2]Department of Biochemistry,University of Toronto,Toronto,ON,Canada

出　　处：《Cell Research》2023年第8期583-584,共2页细胞研究（英文版）

摘　　要：In a recent Nature paper,Mensah et al.demonstrate that a significant subset of frameshift mutations in C-terminal intrinsically disordered regions(IDRs)can alter phase separation propensities,cause protein mislocalization into the nucleolus and disrupt nucleolar function.The work addresses the lack of molecular mechanisms for disease-associated variants in IDRs and provides strong support for the general assessment of how IDR variants cause defects through their impact on biomolecular condensates.

关 键 词：function SEPARATION LINKING 

分 类 号：Q2[生物学—细胞生物学]