Skip to content
Log in
Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Targeting trafficking defects in long QT syndrome type 2: a phase 2 clinical study with patient-specific cellular validation.

L. Crotti Federica Dagradi M. Mura Fulvio L. F. Giovenzana Miriam G. Lorusso Paolo Cerea C. Alberio Prabin Upadhyaya A. Di Mise M. Pedrazzini C. Spazzolini L. Sala Giulia Musu M. Gnecchi Peter J. Schwartz
Sep 2026 · European Heart Journal · 0 citations
Medicine
DOI PubMed Semantic Scholar
View source

Similar papers

Open access Sep 2026

Missense LMNA Variant Compromises Nuclear Integrity and Sarcomeric Remodeling in Dilated Cardiomyopathy

Dilated cardiomyopathy (DCM) is a leading cause of heart failure and cardiac transplantation, and pathogenic variants in LMNA are a well-established cause of inherited DCM. The LMNA gene encodes nuclear lamins A/C, which maintain nuclear integrity, regulate gene expression and mediate mechanotransduction. Here, we inve...

Tanushri Dargar, Estèle Lafont, Laura Boulogne et al. · 0 citations
Open access Jan 2026

Patient‐Derived iPSC‐Cardiomyocytes Reveal Subclinical Cardiomyocyte Dysfunction Associated With the CAV3 N‐Terminal Variant p.Ala46Thr

The CAV3 p.Ala46Thr mutation is previously associated with skeletal muscle damage only, with its myocardial impact and long‐term cardiac risks unclear. This study is aimed at investigating whether it induces subclinical myocardial damage at the cellular level and explore its mechanism using a patient‐specific iPSC‐CMs...

Jun-Yi Wang, Xin Zhu, Ya-Qiong Li et al. · 0 citations
Open access Sep 2026

Generation of an induced pluripotent stem cell line from a long QT syndrome type 1 patient carrying the KCNQ1 c.343G > A p.(E115K) variant.

Long QT syndrome type 1 (LQT1) results from KCNQ1 mutations that compromise the slow delayed rectifier potassium current (IKs), delaying cardiac repolarization, prolonging the QT interval, and increasing risk of life-threatening arrhythmias. LQT1 proarrhythmic risk is most often triggered by exercise, especially swimmi...

Jonathan Kang, Marlon DeBose, E. Gollatz et al. · 0 citations
Open access Aug 2026

Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis

Findings expand the mutational spectrum of SLC4A1-related HS in Indian patients with mild to moderate HS characterized by anemia, jaundice, splenomegaly, reticulocytosis, and reduced EMA fluorescence.

T. More, P. Kedar · 0 citations
Open access Oct 2026

NS1643 enhances the activity of T1019PfsX38 and Q1070X hERG channels associated with long QT syndrome type 2

Type 2 long QT syndrome (LQT2) increases the risk of cardiac arrest and sudden death due to reduced rapid delayed rectifier potassium currents (IKr) in the heart. Caused by loss-of-function genetic variants in the hERG K+ channel, LQT2 might benefit from variant-targeted therapy approaches. T1019PfsX38 and Q1070X are L...

M. Al-Salmani, Amira Al Kharusi, Mohammed Al-Rawahi et al. · 0 citations
Review Open access Sep 2026

Congenital Long QT Syndrome: From Conventional Management to Emerging Biological Therapies

Congenital long QT syndrome (LQTS), the first identified cardiac ion channelopathy, is characterized by delayed ventricular repolarization and a prolonged heart rate-corrected QT interval (QTc), conferring an increased risk of malignant ventricular arrhythmias and sudden cardiac death. Current standard-of-care manageme...

Qing Liu, Yi-Fei Wang, Ping Zhang et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.