Associated Papers
Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.
Sharma S et al.
The Canadian Journal of Cardiology, 2026
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
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Metabolic cardiomyopathies: untangling clinical heterogeneity with human stem-cell derived models.
Passadouro AS et al.
Embo Molecular Medicine, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Emerging roles for microproteins as critical regulators of endoplasmic reticulum function and cellular homeostasis.
Coughlin TM et al.
Seminars in Cell & Developmental Biology, 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
Dilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of calcium.
Cleary SR et al.
The Journal of Biological Chemistry, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Hypertrophic cardiomyopathy: insights into pathophysiology and novel therapeutic strategies from clinical studies.
Olalekan SO et al.
The Egyptian Heart Journal : (ehj) : Official Bulletin of the Egyptian Society of Cardiology, 2025
From Ca2+ dysregulation to heart failure: β-adrenoceptor activation by RKIP postpones molecular damages and subsequent cardiac dysfunction in mice carrying mutant PLNR9C by correction of aberrant Ca2+-handling.
Brand T et al.
Pharmacological Research, 2025
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
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
Reassessing the Mechanisms of PLN-R14del Cardiomyopathy: From Calcium Dysregulation to S/ER Malformation.
Stege NM et al.
Jacc. Basic to Translational Science, 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
From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy.
Veltrop RJA et al.
Cell Communication and Signaling : Ccs, 2024
The cardiomyocyte origins of diastolic dysfunction: cellular components of myocardial "stiffness".
Janssens JV et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2024
Early consequences of the phospholamban mutation PLN-R14del+/- in a transgenic mouse model.
Maniezzi C et al.
Acta Physiologica (oxford, England), 2024
A Heterozygous Phospholamban Variant (p.R14del) Leads to Left Ventricular Involvement and Heart Failure Phenotypes in Arrhythmogenic Right Ventricular Cardiomyopathy.
Mo H et al.
Phenomics (cham, Switzerland), 2024
Unbiased complexome profiling and global proteomics analysis reveals mitochondrial impairment and potential changes at the intercalated disk in presymptomatic R14Δ/+ mice hearts.
Foo B et al.
Plos One, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
The genetic basis for adult-onset idiopathic dilated cardiomyopathy in people of African descent.
Tsabedze N et al.
Heart Failure Reviews, 2023
A perspective on Notch signalling in progression and arrhythmogenesis in familial hypertrophic and dilated cardiomyopathies.
Langa P et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
Dilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of cardiac calcium handling.
Cleary SR et al.
Biorxiv : the Preprint Server for Biology, 2023
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Zanotti S et al.
Cells, 2023
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) in Cardiovascular Disease: A Comprehensive Clinical Review on Dilated Cardiomyopathy.
Ganipineni VDP et al.
Cureus, 2023
Phospholamban R14del disease: The past, the present and the future.
Vafiadaki E et al.
Frontiers in Cardiovascular Medicine, 2023
Early calcium and cardiac contraction defects in a model of phospholamban R9C mutation in zebrafish.
Vicente M et al.
Journal of Molecular and Cellular Cardiology, 2022
Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.
van der Meulen MH et al.
Circulation. Genomic and Precision Medicine, 2022
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart D et al.
Science (new York, N.y.), 2022
Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del.
Deiman FE et al.
Current Heart Failure Reports, 2022
Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients.
Caudal A et al.
Stem Cell Research, 2022
Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series.
Tabata T et al.
Internal Medicine (tokyo, Japan), 2022
Ranolazine rescues the heart failure phenotype of PLN-deficient human pluripotent stem cell-derived cardiomyocytes.
Jiang Y et al.
Stem Cell Reports, 2022
Structures of PKA-phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy.
Qin J et al.
Elife, 2022
Peripartum cardiomyopathy: a global effort to find the cause and cure for the rare and little understood disease.
Li A et al.
Biophysical Reviews, 2022
Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Badone B et al.
International Journal of Molecular Sciences, 2021
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
Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers.
Koch D et al.
Cell Reports, 2021
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello F et al.
Embo Molecular Medicine, 2021
NMRK2 Gene Is Upregulated in Dilated Cardiomyopathy and Required for Cardiac Function and NAD Levels during Aging.
Tannous C et al.
International Journal of Molecular Sciences, 2021
Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases.
Li S et al.
Frontiers in Cell and Developmental Biology, 2021
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
The phenotypic characteristic observed by cardiac magnetic resonance in a PLN-R14del family.
Jiang X et al.
Scientific Reports, 2020
BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy.
Antolic A et al.
Jci Insight, 2020
Dysregulation of Calcium Handling in Duchenne Muscular Dystrophy-Associated Dilated Cardiomyopathy: Mechanisms and Experimental Therapeutic Strategies.
Law ML et al.
Journal of Clinical Medicine, 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