ArticleInternational journal of molecular sciences2022
Antisense Therapy Attenuates Phospholamban p.(Arg14del) Cardiomyopathy in Mice and Reverses Protein Aggregation.
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Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
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Who cites it
16 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- RNA-Based Therapies for Treating Monogenic Cardiomyopathies.The Canadian journal of cardiology · 2026Review
- The SERCA-PLN-DWORF axis in cardiometabolic disease: mechanisms and therapeutic perspectives.Cardiovascular diabetology · 2025Review
- RNA Therapeutics in Heart Failure.Journal of cardiovascular translational research · 2025Review
- In PLN-R14del mice, SR structure restoration, rather than calcium cycling, is the dominant effector of PLN-ASO treatment.Cardiovascular research · 2025Article
- Cardiac remodeling pathways do not accelerate disease onset and severity in a mouse model of PLN-R14del cardiomyopathy.Scientific reports · 2025Article
- Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population.BMC genomics · 2025Article
- Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.Cell discovery · 2025Review
- State of the art and perspectives of gene therapy in heart failure. A scientific statement of the Heart Failure Association of the ESC, the ESC Council on Cardiovascular Genomics and the ESC Working Group on Myocardial & Pericardial Diseases.European journal of heart failure · 2025Review
- Genetic landscape of phospholamban cardiomyopathies.Frontiers in cell and developmental biology · 2025Review
- The phospholamban R14del generates pathogenic aggregates by impairing autophagosome-lysosome fusion.Cellular and molecular life sciences : CMLS · 2024Article
- Reassessing the Mechanisms of PLN-R14del Cardiomyopathy: From Calcium Dysregulation to S/ER Malformation.JACC. Basic to translational science · 2024Review
- Should we offer preventive treatment to all carriers of PLN p.(Arg14del) variant? : Pro: Provide pre-emptive treatment to asymptomatic carriers.Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2023Review
- Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation inCells · 2023Article
- Phospholamban R14del disease: The past, the present and the future.Frontiers in cardiovascular medicine · 2023Review
- Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired CaInternational journal of molecular sciences · 2022Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 3 countries.
Tim R EijgenraamUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0001-8843-9656
Nienke M StegeUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0002-7658-9291
Vivian Oliveira Nunes TeixeiraUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0002-1987-7158
Remco de BrouwerUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0002-5705-2034
Elisabeth M SchoutenUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.
Niels Grote BeverborgUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0003-4629-9960
Liu SunUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.
Daniela SpäterBioscience Cardiovascular, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, 431 50 Gothenburg, Sweden.
Ralph KnöllBioscience Cardiovascular, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, 431 50 Gothenburg, Sweden.ORCID 0000-0001-8871-112X
Kenny M HanssonBioscience Cardiovascular, Research and Early Development, Cardiovascular, Renal and Metabolism (CVRM), BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, 431 50 Gothenburg, Sweden.
Carl AmilonProjects, Research and Early Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, 431 50 Gothenburg, Sweden.
David JanzénDrug Metabolism and Pharmacokinetics, Research and Early Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Pepparedsleden 1, 431 50 Gothenburg, Sweden.ORCID 0000-0002-4134-3849
Steve T YehIonis Pharmaceuticals, 2855 Gazelle Court, Carlsbad, CA 92010, USA.
Adam E MullickIonis Pharmaceuticals, 2855 Gazelle Court, Carlsbad, CA 92010, USA.ORCID 0000-0003-4600-961X
Peter van der MeerUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.
Rudolf A de BoerUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0002-4775-9140
Herman H W SilljéUniversity Medical Center Groningen, Department of Cardiology, University of Groningen, Antonius Deusinglaan 1, 9713 AV Groningen, The Netherlands.ORCID 0000-0003-3292-6302
University Medical Center Groningen · NLAstraZeneca (Sweden) · SEIonis Pharmaceuticals (United States) · US
Funding
European Research Council Consolidator Grant (CoG) 818715 (SECRETE-HF)Leducq Foundation Cure PhosphoLambaN-induced cardiomyopathy (CURE-PLaN)Netherlands Heart Institute 2014-40 (CVON-DOSIS)Netherlands Heart Institute 2017-11 (CVON-RED-CVD)Netherlands Heart Institute 2017-21 (CVON-SHE-PREDICTS-HF)Netherlands Heart Institute 2018-30 (CVON-PREDICT2)Netherlands Heart Institute 2020B005 (DCVA-DOUBLE-DOSE)
Abstract
Inherited cardiomyopathy caused by the p.(Arg14del) pathogenic variant of the phospholamban (
Indexed as
Amino Acid SubstitutionAnimalsCalcium-Binding ProteinsCardiomyopathiesDisease Models, AnimalFemaleHeart Function TestsHumansMaleMiceOligonucleotides, AntisensePhospholambanProtein AggregatesTreatment OutcomeCalcium-Binding ProteinsOligonucleotides, AntisensePhospholambanProtein Aggregatescardiomyopathygene therapygenetic mutationheart failurephospholambanprotein aggregation
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.