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http://dx.doi.org/10.1161/CIRCRESAHA.120.317076 | DOI Listing |
Eur Heart J
August 2025
Myocardial Homeostasis and Cardiac Injury Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
Background: Truncating variants in the Filamin C gene (FLNCtv) are a frequent cause of genetic dilated cardiomyopathy (DCM) and non-dilated left ventricular cardiomyopathy (NDLVC), both characterized by arrhythmic complications and increased risk of sudden cardiac death. Currently, no gene-specific therapies exist for FLNCtv-induced cardiomyopathy. CRISPR activation (CRISPRa), which upregulates gene expression via transcriptional activation without cutting the genome, offers a promising strategy, particularly for genes like FLNC whose large size precludes conventional AAV-based gene replacement.
View Article and Find Full Text PDFOpen Heart
August 2025
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy.
Background: Truncating variants in the Filamin C () gene are causative of highly arrhythmogenic cardiomyopathies. Guidelines remain controversial concerning competitive and high-intensity sports for carriers. Indeed, the impact of high-intensity exercise on individuals carrying these variants remains poorly understood.
View Article and Find Full Text PDFJACC Heart Fail
September 2025
Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (member of the European Reference Network for Rare, Low-Prevalence, or Complex Diseases of the Heart), University of Trieste, Italy. Electronic address:
Background: Nexilin (NEXN)-related cardiomyopathies (CMPs) are largely unexplored.
Objectives: This study investigated the causative role of NEXN in CMPs, examining its phenotypic expression and prognostic profile.
Methods: Twelve referral centers collected phenotypic/genotypic data of patients with NEXN variants.
Int J Mol Sci
June 2025
Department of Biochemistry, School of Biology, Lomonosov Moscow State University, Moscow 119991, Russia.
We investigated the interaction of HspB7 and its α-crystallin domain with the wild-type (WT) C-terminal fragment of human filamin C (FLNC), containing immunoglobulin-like domains 22-24 and its three mutants associated with cardio- and myopathies. The physicochemical properties of the WT FLNC fragment and its three mutants, p.Glu2472_Asn2473delinsAsp (EN/D) located in the 22nd domain, p.
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