ArticleEMBO molecular medicine2021
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
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Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39citing papers in PubMed
3.7field-weighted citation impact, top 5% of its field
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Who cites it
39 citing papers in PubMed, 58 citations in OpenAlex.
- Systematic Profiling of ssODN Determinants Establishes Optimized LbCas12a-Mediated HDR for Precise Genome Editing inJournal of fungi (Basel, Switzerland) · 2026Article
- Human Hematopoietic Stem Cells Enhance Maturational Differentiation of hiPSC-Derived Cardiomyocytes on Xeno-Free MatriClone-Plastic via EGFR/MAPK/ERK Signaling Pathway.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Mitochondrial protein OPA3 sustains cardiac function by regulating calcium handling in male mice.Nature communications · 2026Article
- Plasma proteomics stratification identifies phospholamban R14del carriers at risk for disease progression.Cardiovascular research · 2026Article
- Phosphoproteomics distinguishes disease-specific mechanisms for human phospholamban cardiomyopathy reversible by RNA therapy.Signal transduction and targeted therapy · 2026Article
- Models of the human heart for biomedical research: Opportunities and challenges.Physiological reports · 2026Review
- Review
- Human Cardiac Organoids: Advances and Prospects from Construction to Preclinical Drug Evaluation.Cells · 2025Review
- Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.Channels (Austin, Tex.) · 2025Review
- A guide to characterizing the dynamic mitochondria-endoplasmic reticulum contact sites.The FEBS journal · 2025Review
- Sarcoplasmic reticulum-mitochondria microdomains: hugging and kissing in the heart.American journal of physiology. Cell physiology · 2025Review
- Modelling neurocardiac physiology and diseases using human pluripotent stem cells: current progress and future prospects.The Journal of physiology · 2025Review
- Altered endoplasmic reticulum calcium loading in human PLN-R14del cardiomyopathy.Frontiers in cell and developmental biology · 2025Article
- 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
- Efficient and reproducible generation of human iPSC-derived cardiomyocytes and cardiac organoids in stirred suspension systems.Nature communications · 2024Article
- Lipid Droplet-Mitochondria Contacts in Health and Disease.International journal of molecular sciences · 2024Review
- Efficient and reproducible generation of human iPSC-derived cardiomyocytes using a stirred bioreactor.bioRxiv : the preprint server for biology · 2024Article
- The new era of cardiovascular research: revolutionizing cardiovascular research with 3D models in a dish.Medical review (2021) · 2024Review
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Authors and funding
27 authors at 7 institutions in 3 countries.
Friederike CuelloDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0003-1612-1715
Anika E KnaustDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Umber SaleemDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Malte LoosDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Janice RaabeDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Diogo MosqueiraDivision of Cancer & Stem Cells, Biodiscovery Institute, University of Nottingham, Nottingham, UK.ORCID 0000-0002-2306-3915
Sandra LauferDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Michaela SchweizerElectron Microscopy Unit, Center for Molecular Neurobiology Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Petra van der KraakDepartment of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Frederik FlennerDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Bärbel M UlmerDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ingke BrarenGerman Center for Heart Research (DZHK), Kiel, Germany.
Xiaoke YinKing's British Heart Foundation Centre of Research Excellence, King's College London, London, UK.
Konstantinos TheofilatosKing's British Heart Foundation Centre of Research Excellence, King's College London, London, UK.
Jorge Ruiz-OreraCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Giannino PatoneCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Birgit KlampeDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Thomas SchulzeDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Angelika PiaseckiDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Yigal PintoDepartment of Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands.
Aryan VinkDepartment of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Norbert HübnerCardiovascular and Metabolic Sciences, Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
Sian HardingBritish Heart Foundation Centre of Research Excellence, NHLI, Imperial College London, London, UK.
Manuel MayrKing's British Heart Foundation Centre of Research Excellence, King's College London, London, UK.
Chris DenningDivision of Cancer & Stem Cells, Biodiscovery Institute, University of Nottingham, Nottingham, UK.
Thomas EschenhagenDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Arne HansenDepartment of Experimental Pharmacology and Toxicology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.ORCID 0000-0003-2628-0453
Universität Hamburg · DEKing's College London · GBMax Delbrück Center · DEUniversity of Nottingham · GBUtrecht University · NLAmsterdam UMC Location University of Amsterdam · NLBritish Heart Foundation · GB
Funding
British Heart Foundation CH/16/3/32406British Heart Foundation RG/14/1/30588British Heart Foundation RG/16/14/32397British Heart Foundation RM/13/30157Medical Research Council MR/L012618/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/C013105/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/C013202/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/S001808/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/T2T0119
Abstract
The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/Cas9, and cardiomyocytes were differentiated. Mutant cardiomyocytes revealed significantly prolonged Ca
Indexed as
Heart TransplantationMyocytes, CardiacCalcium-Binding ProteinsEndoplasmic ReticulumHumansMitochondriaMutationPhospholambanProteomicsTissue DonorsCalcium-Binding ProteinsPhospholambanendoplasmic reticulumengineered heart tissuehuman-induced pluripotent stem cellsmitochondriaphospholamban p.Arg14del
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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.