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 …

The cardiac desmosome and arrhythmogenic cardiomyopathies: from gene to disease

M Delmar, WJ McKenna - Circulation research, 2010 - ahajournals.org
Intercellular communication is essential for proper cardiac function. Mechanical and
electrical activity need to be synchronized so that the work of individual myocytes transforms …

Biology of cardiac sodium channel Nav1.5 expression

MB Rook, MM Evers, MA Vos… - Cardiovascular …, 2012 - academic.oup.com
Abstract Nav1. 5, the pore forming α-subunit of the voltage-dependent cardiac Na+ channel,
is an integral membrane protein involved in the initiation and conduction of action potentials …

Interactions between ankyrin-G, Plakophilin-2, and Connexin43 at the cardiac intercalated disc

PY Sato, W Coombs, X Lin, O Nekrasova… - Circulation …, 2011 - ahajournals.org
Rationale: The early description of the intercalated disc defined 3 structures, all of them
involved in cell-cell communication: desmosomes, gap junctions, and adherens junctions …

SAP97 and Dystrophin Macromolecular Complexes Determine Two Pools of Cardiac Sodium Channels Nav1.5 in Cardiomyocytes

S Petitprez, AF Zmoos, J Ogrodnik, E Balse… - Circulation …, 2011 - ahajournals.org
Rationale: The cardiac sodium channel Nav1. 5 plays a key role in excitability and
conduction. The 3 last residues of Nav1. 5 (Ser-Ile-Val) constitute a PDZ-domain binding …

A βIV-spectrin/CaMKII signaling complex is essential for membrane excitability in mice

TJ Hund, OM Koval, J Li, PJ Wright, L Qian… - The Journal of clinical …, 2010 - jci.org
Ion channel function is fundamental to the existence of life. In metazoans, the coordinate
activities of voltage-gated Na+ channels underlie cellular excitability and control neuronal …

Cardiac sodium channel Nav1. 5 and interacting proteins: physiology and pathophysiology

H Abriel - Journal of molecular and cellular cardiology, 2010 - Elsevier
The cardiac voltage-gated Na+ channel Nav1. 5 generates the cardiac Na+ current (INa).
Mutations in SCN5A, the gene encoding Nav1. 5, have been linked to many cardiac …

Limited forward trafficking of connexin 43 reduces cell-cell coupling in stressed human and mouse myocardium

JW Smyth, TT Hong, D Gao, JM Vogan… - The Journal of clinical …, 2010 - jci.org
Gap junctions form electrical conduits between adjacent myocardial cells, permitting rapid
spatial passage of the excitation current essential to each heartbeat. Arrhythmogenic …

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

DS Auerbach, J Jones, BC Clawson, J Offord… - PloS one, 2013 - journals.plos.org
Objective Dravet syndrome is a severe form of intractable pediatric epilepsy with a high
incidence of SUDEP: S udden U nexpected D eath in epilepsy. Cardiac arrhythmias are a …

Cardiac Kir2.1 and NaV1.5 Channels Traffic Together to the Sarcolemma to Control Excitability

D Ponce-Balbuena, G Guerrero-Serna… - Circulation …, 2018 - ahajournals.org
Rationale: In cardiomyocytes, NaV1. 5 and Kir2. 1 channels interact dynamically as part of
membrane bound macromolecular complexes. Objective: The objective of this study was to …