Associated Papers
Promoting Autophagy Mitigates Stress-Induced Remodeling in Patient iPSC-CMs with the Phospholamban R9C Mutation.
Yu Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
G protein regulation by RGS proteins in the pathophysiology of dilated cardiomyopathy.
Garcia YE et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2025
Genetic landscape of phospholamban cardiomyopathies.
Vafiadaki E et al.
Frontiers in Cell and Developmental Biology, 2025
Pathological mutations in the phospholamban cytoplasmic region affect its topology and dynamics modulating the extent of SERCA inhibition.
Weber DK et al.
Biochimica Et Biophysica Acta. Biomembranes, 2024
Mitigation of Stress-induced Structural Remodeling and Functional Deficiency in iPSC-CMs with PLN R9C Mutation by Promoting Autophagy.
Yu Q et al.
Biorxiv : the Preprint Server for Biology, 2024
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Zanotti S et al.
Cells, 2023
Signaling network model of cardiomyocyte morphological changes in familial cardiomyopathy.
Khalilimeybodi A et al.
Journal of Molecular and Cellular Cardiology, 2023
Phospholamban R14del disease: The past, the present and the future.
Vafiadaki E et al.
Frontiers in Cardiovascular Medicine, 2023
Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series.
Tabata T et al.
Internal Medicine (tokyo, Japan), 2022
Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis.
Vafiadaki E et al.
International Journal of Molecular Sciences, 2022
Modeling of dilated cardiomyopathy by establishment of isogenic human iPSC lines carrying phospholamban C25T (R9C) mutation (UPITTi002-A-1) using CRISPR/Cas9 editing.
Barndt RJ et al.
Stem Cell Research, 2021
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello F et al.
Embo Molecular Medicine, 2021
The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family.
Jiang X et al.
Scientific Reports, 2020
Viral expression of a SERCA2a-activating PLB mutant improves calcium cycling and synchronicity in dilated cardiomyopathic hiPSC-CMs.
Stroik DR et al.
Journal of Molecular and Cellular Cardiology, 2020
Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN).
Doevendans PA et al.
Circulation Research, 2019
Calcium as a Key Player in Arrhythmogenic Cardiomyopathy: Adhesion Disorder or Intracellular Alteration?
Moccia F et al.
International Journal of Molecular Sciences, 2019
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O et al.
Human Mutation, 2019
Prevalence and cardiac phenotype of patients with a phospholamban mutation.
Hof IE et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
Genetic Variants Are Not Rare in ICD Candidates with Dilated Cardiomyopathy: Time for Next-Generation Sequencing?
Sousa A et al.
Cardiology Research and Practice, 2019
Probing membrane protein ground and conformationally excited states using dipolar- and J-coupling mediated MAS solid state NMR experiments.
Gopinath T et al.
Methods (san Diego, Calif.), 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Multigenic Disease and Bilineal Inheritance in Dilated Cardiomyopathy Is Illustrated in Nonsegregating LMNA Pedigrees.
Cowan JR et al.
Circulation. Genomic and Precision Medicine, 2018
Effects of the Arg9Cys and Arg25Cys mutations on phospholamban's conformational equilibrium in membrane bilayers.
Nelson SED et al.
Biochimica Et Biophysica Acta. Biomembranes, 2018
Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.
Ceholski DK et al.
Journal of Molecular and Cellular Cardiology, 2018
Calcium Signaling and Cardiac Arrhythmias.
Landstrom AP et al.
Circulation Research, 2017
Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways.
van Opbergen CJ et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2017
Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.
Kayvanpour E et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2017
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.
Fish M et al.
Scientific Reports, 2016
A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia.
Liu GS et al.
Cardiovascular Research, 2015
Linking superinhibitory PLN mutations to CaMKII activation: a new arrhythmogenic mechanism in genetic DCM?
Wagner M et al.
Cardiovascular Research, 2015
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER et al.
Cardiovascular Research, 2015
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.
Lopes LR et al.
Journal of Medical Genetics, 2013