Arrhythmogenic cardiomyopathy

D Corrado, C Basso, DP Judge - Circulation research, 2017 - Am Heart Assoc
Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to
sudden cardiac death, particularly in young patients and athletes. Pathological features …

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 …

[HTML][HTML] Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy

SP Chelko, A Asimaki, P Andersen, D Bedja… - JCI insight, 2016 - ncbi.nlm.nih.gov
Arrhythmogenic cardiomyopathy (ACM) is characterized by redistribution of junctional
proteins, arrhythmias, and progressive myocardial injury. We previously reported that …

Animal models to study cardiac arrhythmias

DJ Blackwell, J Schmeckpeper… - Circulation research, 2022 - Am Heart Assoc
Cardiac arrhythmias are a significant cause of morbidity and mortality worldwide, accounting
for 10% to 15% of all deaths. Although most arrhythmias are due to acquired heart disease …

Plakophilin 2 gene therapy prevents and rescues arrhythmogenic right ventricular cardiomyopathy in a mouse model harboring patient genetics

WH Bradford, J Zhang, EJ Gutierrez-Lara… - Nature Cardiovascular …, 2023 - nature.com
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a fatal genetic heart disease
characterized by cardiac arrhythmias, in which fibrofatty deposition leads to heart failure …

Murine electrophysiological models of cardiac arrhythmogenesis

CLH Huang - Physiological reviews, 2017 - journals.physiology.org
Cardiac arrhythmias can follow disruption of the normal cellular electrophysiological
processes underlying excitable activity and their tissue propagation as coherent wavefronts …

Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy

X Fang, J Bogomolovas, T Wu, W Zhang… - The Journal of …, 2017 - Am Soc Clin Investig
Defective protein quality control (PQC) systems are implicated in multiple diseases.
Molecular chaperones and co-chaperones play a central role in functioning PQC. Constant …

Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy

E Sommariva, S Brambilla, C Carbucicchio… - European heart …, 2016 - academic.oup.com
Aim Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder mainly due to mutations in
desmosomal genes, characterized by progressive fibro-adipose replacement of the …

Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation

S Castelletti, AS Vischer, P Syrris, L Crotti… - International Journal of …, 2017 - Elsevier
Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally
considered as primarily affecting the right ventricle. Mutations in genes encoding …

The genetic landscape of cardiomyopathies

B Gerull, S Klaassen, A Brodehl - Genetic causes of cardiac disease, 2019 - Springer
Insights into genetic causes of cardiomyopathies have tremendously contributed to the
understanding of the molecular basis and pathophysiology of hypertrophic, dilated …