Polyamines and their metabolism: from the maintenance of physiological homeostasis to the mediation of disease

K Zahedi, S Barone, M Soleimani - Medical Sciences, 2022 - mdpi.com
The polyamines spermidine and spermine are positively charged aliphatic molecules. They
are critical in the regulation of nucleic acid and protein structures, protein synthesis, protein …

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 …

Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency

M Cerrone, M Noorman, X Lin… - Cardiovascular …, 2012 - academic.oup.com
Aims The shRNA-mediated loss of expression of the desmosomal protein plakophilin-2
leads to sodium current (INa) dysfunction. Whether pkp2 gene haploinsufficiency leads to …

A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

A Cámara-Checa, F Perin… - Proceedings of the …, 2023 - National Acad Sciences
In a family with inappropriate sinus tachycardia (IST), we identified a mutation (p. V240M) of
the hyperpolarization-activated cyclic nucleotide–gated type 4 (HCN4) channel, which …

Natural history and risk stratification in Andersen-Tawil syndrome type 1

A Mazzanti, D Guz, A Trancuccio, E Pagan… - Journal of the American …, 2020 - jacc.org
Abstract Background Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic
disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the …

Nav1. 5 N-terminal domain binding to α1-syntrophin increases membrane density of human Kir2. 1, Kir2. 2 and Nav1. 5 channels

M Matamoros, M Perez-Hernandez… - Cardiovascular …, 2016 - academic.oup.com
Aims Cardiac excitability and refractoriness are largely determined by the function and
number of inward rectifier K+ channels (Kir2. 1–2.3), which are differentially expressed in the …

Next-generation inward rectifier potassium channel modulators: discovery and molecular pharmacology

CD Weaver, JS Denton - American Journal of Physiology …, 2021 - journals.physiology.org
Inward rectifying potassium (Kir) channels play important roles in both excitable and
nonexcitable cells of various organ systems and could represent valuable new drug targets …

Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome

AI Moreno-Manuel, LK Gutiérrez… - Cardiovascular …, 2023 - academic.oup.com
Andersen-Tawil syndrome (ATS) is a rare inheritable disease associated with loss-of-
function mutations in KCNJ2, the gene coding the strong inward rectifier potassium channel …

Empagliflozin and Dapagliflozin Increase Na+ and Inward Rectifier K+ Current Densities in Human Cardiomyocytes Derived from Induced Pluripotent Stem Cells …

M Dago, T Crespo-García, A Cámara-Checa, J Rapún… - Cells, 2022 - mdpi.com
Dapagliflozin (dapa) and empagliflozin (empa) are sodium-glucose cotransporter-2
inhibitors (SGLT2is) that reduce morbidity and mortality in heart failure (HF) patients. Sodium …

Congenital Long QT syndrome and torsade de pointes

N El‐Sherif, G Turitto, M Boutjdir - Annals of Noninvasive …, 2017 - Wiley Online Library
Since its initial description by Jervell and Lange‐Nielsen in 1957, the congenital long QT
syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged …