Desmosomal protein structure and function and the impact of disease-causing mutations
| Autor: | Martyn Chidgey, Fiyaz Mohammed |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetics
0303 health sciences 030302 biochemistry & molecular biology Intermediate filament cytoskeleton Disease Biology Right ventricular cardiomyopathy Structure and function 03 medical and health sciences medicine.anatomical_structure Desmosomal protein Structural Biology Desmosome Mutation medicine Humans Missense mutation Plakophilins Arrhythmogenic Right Ventricular Dysplasia 030304 developmental biology |
| Zdroj: | Journal of Structural Biology. 213:107749 |
| ISSN: | 1047-8477 |
| DOI: | 10.1016/j.jsb.2021.107749 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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