Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function

Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function

Plakin repeat domains (PRDs) are globular modules that mediate the interaction of plakin proteins with the intermediate filament (IF) cytoskeleton. These associations are vital for maintaining tissue integrity in cardiac muscle and epithelial tissues. PRDs are subject to mutations that give rise to...

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Bibliographic Details
Main Authors: Fiyaz Mohammed, Elena Odintsova, Martyn Chidgey
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Molecular Sciences
Subjects:
desmosome
desmoplakin
plakin repeat domain
mutation
arrhythmogenic right ventricular cardiomyopathy
Online Access:https://www.mdpi.com/1422-0067/23/1/529

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https://www.mdpi.com/1422-0067/23/1/529

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