Patient-specific iPSC-derived cardiomyocytes reveal aberrant activation of Wnt/β-catenin signaling in SCN5A-related Brugada syndrome

D Cai, X Wang, Y Sun, H Fan, J Zhou, Z Yang… - Stem Cell Research & …, 2023 - Springer
… channel gene SCN5A cause Brugada syndrome (BrS), an arrhythmic disorder that is a …
Wnt/β-catenin signaling has been recently established. However, the role of Wnt/β-catenin

Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome

J Moncayo-Arlandi, R Brugada - Nature Reviews Cardiology, 2017 - nature.com
… b | The most prevalent mutations associated with Brugada syndrome (BrS) occur in
genes that encode channels involved in the sodium (SCN5A and SCN10A) and calcium (CACN1A) …

Inhibition of Wnt/βcatenin signaling upregulates Nav1.5 channels in Brugada syndrome iPSC‐derived cardiomyocytes

A Lu, R Gu, C Chu, Y Xia, J Wang… - Physiological …, 2023 - Wiley Online Library
… Downregulation of I Na , as occurs in Brugada syndrome (BrS), causes ventricular arrhythmias.
The present study investigated whether the Wnt/β-catenin signaling regulates Na v 1.5 in …

[HTML][HTML] Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy

A Lorenzon, M Calore, G Poloni, LJ De Windt… - Oncotarget, 2017 - ncbi.nlm.nih.gov
… Wnt/β-catenin signaling pathway plays essential roles in … a crucial role of Wnt/β-catenin
signaling in the molecular … data regarding the Wnt/β-catenin signaling contribution to AC …

Enhancement of β-catenin/T-cell factor 4 signaling causes susceptibility to cardiac arrhythmia by suppressing NaV1. 5 expression in mice

R Huo, C Hu, L Zhao, L Sun, N Wang, Y Lu, B Ye… - Heart Rhythm, 2019 - Elsevier
… Genetic analysis revealed that SCN5A mutations cause inherited arrhythmogenic diseases,
including long QT syndrome, 1 Brugada syndrome, 2 and idiopathic ventricular fibrillation. …

Brugada syndrome and arrhythmogenic cardiomyopathy: overlapping disorders of the connexome?

Y Ben-Haim, A Asimaki, ER Behr - EP Europace, 2021 - academic.oup.com
… Shanghai score for diagnosis of Brugada syndrome and Modified Task Force criteria for
diagnosis of ARVC showing the diagnostic categories for the diagnosis of each disease. ARVC, …

Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes

PJ Mohler, I Rivolta, C Napolitano… - Proceedings of the …, 2004 - National Acad Sciences
Brugada syndrome associated with SCN5A E1053K mutation. (… Human Brugada mutation
E1053K is located within these … associated with Brugada syndrome and Brugada syndrome is …

Wnt Signaling Inhibition Rescues Voltage-Gated Na+ Current in Brugada Syndrome Patient Cardiomyocytes

W Liang, A Lu, C Chu, J Wang - Circulation Research, 2019 - Am Heart Assoc
Brugada hiPSC-CMs with shRNA-mediated β-cateninBrugada hiPSC-CMs. Conclusions:
This study demonstrated Wnt-inhibition of human cardiac I Na and, using Brugada Syndrome

[HTML][HTML] Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome

E Agullo-Pascual, M Cerrone, M Delmar - FEBS letters, 2014 - Elsevier
… As the edges of the molecular complexes are blurred, so are the clinical syndromes that
associate with them: Brugada syndrome is not purely arrhythmogenic (but includes a structural …

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

M Cerrone, X Lin, M Zhang, E Agullo-Pascual… - Circulation, 2014 - Am Heart Assoc
… Yet, loss of function of the sodium channel has been primarily associated with the phenotype
of a different inherited arrhythmia, namely Brugada syndrome (BrS). Here, we speculate …