[PDF][PDF] From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies

L Crotti, P Brugada, H Calkins, P Chevalier, G Conte… - Europace, 2023 - academic.oup.com
In the early nineties, few years before the birth of Europace, the clinical and scientific world
of familial arrhythmogenic conditions was revolutionized by the identification of the first …

AGGF1 therapy inhibits thoracic aortic aneurysms by enhancing integrin α7-mediated inhibition of TGF-β1 maturation and ERK1/2 signaling

X Da, Z Li, X Huang, Z He, Y Yu, T Tian, C Xu… - Nature …, 2023 - nature.com
Thoracic aortic aneurysm (TAA) is a localized or diffuse dilatation of the thoracic aortas, and
causes many sudden deaths each year worldwide. However, there is no effective …

AAV‐Mediated nuclear localized PGC1α4 delivery in muscle ameliorates sarcopenia and aging‐associated metabolic dysfunctions

M Guo, J Zhang, Y Ma, Z Zhu, H Zuo, J Yao, X Wu… - Aging …, 2023 - Wiley Online Library
Sarcopenia is characterized of muscle mass loss and functional decline in elder individuals
which severely affects human physical activity, metabolic homeostasis, and life quality …

Gene and stem cell therapy for inherited cardiac arrhythmias

ZH Zhang, H Barajas-Martinez, H Jiang… - Pharmacology & …, 2024 - Elsevier
Inherited cardiac arrhythmias are a group of genetic diseases predisposing to sudden
cardiac arrest, mainly resulting from variants in genes encoding cardiac ion channels or …

Subcellular diversity of Nav1. 5 in cardiomyocytes: distinct functions, mechanisms and targets

GA Marchal, CA Remme - The Journal of Physiology, 2023 - Wiley Online Library
In cardiomyocytes, the rapid depolarisation of the membrane potential is mediated by the α‐
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …

Prokaryotic voltage-gated sodium channels are more effective than endogenous Nav1.5 channels in rescuing cardiac action potential conduction: an in silico study

D Needs, T Wu, HX Nguyen… - American Journal of …, 2023 - journals.physiology.org
Methods to augment Na+ current in cardiomyocytes hold potential for the treatment of
various cardiac arrhythmias involving conduction slowing. Because the gene coding cardiac …

Biochemical Structure and Function of TRAPP Complexes in the Cardiac System

P Papaioannou, MJ Wallace, N Malhotra… - Basic to Translational …, 2023 - jacc.org
Trafficking protein particle (TRAPP) is well reported to play a role in the trafficking of protein
products within the Golgi and endoplasmic reticulum. Dysfunction in TRAPP has been …

Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome

FM Cruz, Á Macías, AI Moreno-Manuel… - Circulation …, 2024 - Am Heart Assoc
BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by
mutations in the gene coding the strong inwardly rectifying K+ channel Kir2. 1. The …

Animal Disease Models and Patient-iPS-Cell-Derived In Vitro Disease Models for Cardiovascular Biology—How Close to Disease?

N Kawaguchi, T Nakanishi - Biology, 2023 - mdpi.com
Simple Summary Currently, rodents and pigs are the primary disease models used in
cardiovascular research. Generally, larger animals that are more closely related to humans …

The Role of Genetics in the Management of Heart Failure Patients

G Palmieri, MF D'Ambrosio, M Correale… - International Journal of …, 2023 - mdpi.com
Over the last decades, the relevance of genetics in cardiovascular diseases has expanded,
especially in the context of cardiomyopathies. Its relevance extends to the management of …