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 …
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 …
Background: Plakophilin-2 (PKP2) is classically defined as a desmosomal protein. Mutations
in PKP2 associate with most cases of gene-positive arrhythmogenic right ventricular …
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 …
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 (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 …
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 …
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 …
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 …
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
Background Arrhythmogenic cardiomyopathy (AC) is a myocardial disease due to
desmosomal mutations whose pathogenesis is incompletely understood. Objective The …
desmosomal mutations whose pathogenesis is incompletely understood. Objective The …
Plakophilin-2 truncating variants impair cardiac contractility by disrupting sarcomere stability and organization
Progressive loss of cardiac systolic function in arrhythmogenic cardiomyopathy (ACM) has
recently gained attention as an important clinical consideration in managing the disease …
recently gained attention as an important clinical consideration in managing the disease …