Molecular mechanisms of arrhythmogenic cardiomyopathy

KM Austin, MA Trembley, SF Chandler… - Nature Reviews …, 2019 - nature.com
Arrhythmogenic cardiomyopathy is a genetic disorder characterized by the risk of life-
threatening arrhythmias, myocardial dysfunction and fibrofatty replacement of myocardial …

Disruption of Ca2+i Homeostasis and Connexin 43 Hemichannel Function in the Right Ventricle Precedes Overt Arrhythmogenic Cardiomyopathy in Plakophilin-2 …

JC Kim, M Perez-Hernandez, FJ Alvarado, SR Maurya… - Circulation, 2019 - Am Heart Assoc
Background: Plakophilin-2 (PKP2) is classically defined as a desmosomal protein. Mutations
in PKP2 associate with most cases of gene-positive arrhythmogenic right ventricular …

[HTML][HTML] Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype

CL Hall, MM Akhtar, M Sabater-Molina… - International journal of …, 2020 - Elsevier
Background Pathogenic variants in the filamin C (FLNC) gene are associated with inherited
cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. We …

Desmoplakin variants are associated with idiopathic pulmonary fibrosis

SK Mathai, BS Pedersen, K Smith… - American journal of …, 2016 - atsjournals.org
Rationale: Sequence variation, methylation differences, and transcriptional changes in
desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF) …

Desmoplakin maintains gap junctions by inhibiting Ras/MAPK and lysosomal degradation of connexin-43

CY Kam, AD Dubash, E Magistrati, S Polo… - Journal of Cell …, 2018 - rupress.org
Desmoplakin (DP) is an obligate component of desmosomes, intercellular adhesive
junctions that maintain the integrity of the epidermis and myocardium. Mutations in DP can …

GSK3-and PRMT-1–dependent modifications of desmoplakin control desmoplakin–cytoskeleton dynamics

LV Albrecht, L Zhang, J Shabanowitz, E Purevjav… - Journal of Cell …, 2015 - rupress.org
Intermediate filament (IF) attachment to intercellular junctions is required for skin and heart
integrity, but how the strength and dynamics of this attachment are modulated during normal …

Comparative proteomic analysis of human lung telocytes with fibroblasts

Y Zheng, D Cretoiu, G Yan, SM Cretoiu… - Journal of cellular …, 2014 - Wiley Online Library
Telocytes (TC s) were recently described as interstitial cells with very long prolongations
named telopodes (Tps; www. telocytes. com). Establishing the TC proteome is a priority to …

Reversing mechanoinductive DSP expression by CRISPR/dCas9–mediated epigenome editing

J Qu, L Zhu, Z Zhou, P Chen, S Liu… - American Journal of …, 2018 - atsjournals.org
Rationale: DSP (desmoplakin), the most abundant component of desmosomes, which
maintain the mechanical integrity of epithelium, is a genome-wide association study …

[HTML][HTML] Novel pathogenic role for galectin-3 in early disease stages of arrhythmogenic cardiomyopathy

M Cason, R Celeghin, MB Marinas, G Beffagna… - Heart Rhythm, 2021 - Elsevier
Background Arrhythmogenic cardiomyopathy (AC) is a myocardial disease due to
desmosomal mutations whose pathogenesis is incompletely understood. Objective The …

Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization

K Zhang, PE Cloonan, S Sundaram, F Liu, SL Das… - Science …, 2021 - science.org
Progressive loss of cardiac systolic function in arrhythmogenic cardiomyopathy (ACM) has
recently gained attention as an important clinical consideration in managing the disease …