Journal of Structural Biology ( IF 3.0 ) Pub Date : 2021-05-24 , DOI: 10.1016/j.jsb.2021.107749 Fiyaz Mohammed 1 , Martyn Chidgey 2
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In this graphical review we focus on the structural characteristics of desmosomal proteins, their interactions with each other and with the intermediate filament cytoskeleton. The wealth of structural information that is now available allows predictions to be made about the pathogenic effect of disease-causing mutations. We have selected representative examples of missense mutations that are buried, semi-buried or surface exposed, and demonstrate how such variants could affect the structural fold of desmosomal proteins that are expressed in the heart. We explain how such alterations could compromise desmosomal adhesion, resulting in life threatening diseases including arrhythmogenic right ventricular cardiomyopathy.
中文翻译：
桥粒蛋白的结构和功能以及致病突变的影响
在这个图形回顾中，我们关注桥粒蛋白的结构特征，它们之间的相互作用以及与中间丝细胞骨架的相互作用。现在可用的大量结构信息可以预测致病突变的致病作用。我们选择了埋藏、半埋藏或表面暴露的错义突变的代表性例子，并展示了这些变体如何影响心脏中表达的桥粒蛋白的结构折叠。我们解释了这种改变如何损害桥粒粘附，导致危及生命的疾病，包括致心律失常性右心室心肌病。
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