Calcium sparks

H Cheng, WJ Lederer - Physiological reviews, 2008 - journals.physiology.org
The calcium ion (Ca2+) is the simplest and most versatile intracellular messenger known.
The discovery of Ca2+ sparks and a related family of elementary Ca2+ signaling events has …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

[HTML][HTML] Channelopathies

JB Kim - Korean journal of pediatrics, 2014 - ncbi.nlm.nih.gov
Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of
ion channels located in the membranes of all cells and many cellular organelles. These …

Inwardly rectifying potassium channel Kir2. 1 and its “Kir-ious” regulation by protein trafficking and roles in development and disease

NA Hager, CK McAtee, MA Lesko… - Frontiers in Cell and …, 2022 - frontiersin.org
Potassium (K+) homeostasis is tightly regulated for optimal cell and organismal health.
Failure to control potassium balance results in disease, including cardiac arrythmias and …

Voltage-gated Nav channel targeting in the heart requires an ankyrin-G–dependent cellular pathway

JS Lowe, O Palygin, N Bhasin, TJ Hund… - The Journal of cell …, 2008 - rupress.org
Voltage-gated Nav channels are required for normal electrical activity in neurons, skeletal
muscle, and cardiomyocytes. In the heart, Nav1. 5 is the predominant Nav channel, and …

Ion channel gene mutations causing skeletal muscle disorders: pathomechanisms and opportunities for therapy

L Maggi, S Bonanno, C Altamura, JF Desaphy - Cells, 2021 - mdpi.com
Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

Andersen–Tawil syndrome: clinical and molecular aspects

HL Nguyen, GH Pieper, R Wilders - International journal of cardiology, 2013 - Elsevier
Andersen–Tawil syndrome (ATS) is a rare hereditary multisystem disorder. Ventricular
arrhythmias, periodic paralysis and dysmorphic features constitute the classic triad of ATS …

High-throughput screening reveals a small-molecule inhibitor of the renal outer medullary potassium channel and Kir7. 1

LM Lewis, G Bhave, BA Chauder, S Banerjee… - Molecular …, 2009 - ASPET
The renal outer medullary potassium channel (ROMK) is expressed in the kidney tubule and
critically regulates sodium and potassium balance. The physiological functions of other …

Molecular and genetic basis of sudden cardiac death

AL George - The Journal of clinical investigation, 2013 - Am Soc Clin Investig
The abrupt cessation of effective cardiac function due to an aberrant heart rhythm can cause
sudden and unexpected death at any age, a syndrome called sudden cardiac death (SCD) …

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents

T Hattori, T Makiyama, M Akao, E Ehara… - Cardiovascular …, 2012 - academic.oup.com
Abstract Aims Short-QT syndrome (SQTS) is a recently recognized disorder associated with
atrial fibrillation (AF) and sudden death due to ventricular arrhythmias. Mutations in several …