Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review

S Grondin, AC Wazirian, P Jorda… - American Journal of …, 2020 - Wiley Online Library
Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin,
have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We …

KEAP1 cancer mutants: a large-scale molecular dynamics study of protein stability

CJ Wilson, M Chang, M Karttunen… - International journal of …, 2021 - mdpi.com
We have performed 280 μ s of unbiased molecular dynamics (MD) simulations to investigate
the effects of 12 different cancer mutations on Kelch-like ECH-associated protein 1 …

Prevention of Protease-Induced Degradation of Desmoplakin via Small Molecule Binding

IM Romov, RA Nowzari, CP Page, MR Benes… - Journal of Personalized …, 2024 - mdpi.com
Desmoplakin (DSP) is a large (~ 260 kDa) protein found in the desmosome, the subcellular
structure that links the intermediate filament network of one cell to its neighbor. A mutation …

Uncovering the Contribution of Desmoplakin Isoforms to Desmosome Structure and Function

K Patel - 2024 - search.proquest.com
Desmosomes are cell-cell junctions that maintain the integrity of tissues that experience
significant mechanical stress, such as the skin and heart. Desmosomal plaque proteins are …

[图书][B] Novel ACM Mouse Model Derived From a Human Desmoplakin Variant Displays a Cardiac Phenotype Upon Stress

TL Stevens - 2022 - search.proquest.com
Arrhythmias account for approximately 250,000 deaths in the US annually, with nearly half
being associated with heart disease. Arrhythmogenic disorders are broken down into a …