| Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. | Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy.
Armanious GP, Lemieux MJ, Espinoza-Fonseca LM, Young HS. | 04/25/2024 |
| Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers. | Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.
Lopera-Maya EA, Li S, de Brouwer R, Nolte IM, van Breen J, Netherlands A. C. M./P. L. N. Registry, Lifelines Cohort Study, Jongbloed JDH, Swertz MA, Snieder H, Franke L, Wijmenga C, de Boer RA, Deelen P, van der Zwaag PA, Sanna S., Free PMC Article | 12/18/2023 |
| Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C. | Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C.
Vera CD, Manhas A, Shenoy SP, Wheeler MT, Sallam K, Wu JC., Free PMC Article | 08/13/2022 |
| Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump. | Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump.
Cleary SR, Fang X, Cho EE, Pribadi MP, Seflova J, Beach JR, Kekenes-Huskey PM, Robia SL., Free PMC Article | 07/30/2022 |
| Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis. | Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis.
Vafiadaki E, Haghighi K, Arvanitis DA, Kranias EG, Sanoudou D., Free PMC Article | 07/23/2022 |
| When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. | When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.
Fukuzawa A, Koch D, Grover S, Rees M, Gautel M., Free PMC Article | 03/12/2022 |
| Molecular noise filtering in the beta-adrenergic signaling network by phospholamban pentamers. | Molecular noise filtering in the β-adrenergic signaling network by phospholamban pentamers.
Koch D, Alexandrovich A, Funk F, Kho AL, Schmitt JP, Gautel M., Free PMC Article | 02/12/2022 |
| An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation. | An mRNA assay system demonstrates proteasomal-specific degradation contributes to cardiomyopathic phospholamban null mutation.
Rohner E, Witman N, Sohlmer J, De Genst E, Louch WE, Sahara M, Chien KR., Free PMC Article | 01/22/2022 |
| Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy. | Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy.
Kamel SM, van Opbergen CJM, Koopman CD, Verkerk AO, Boukens BJD, de Jonge B, Onderwater YL, van Alebeek E, Chocron S, Polidoro Pontalti C, Weuring WJ, Vos MA, de Boer TP, van Veen TAB, Bakkers J., Free PMC Article | 01/22/2022 |
| Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. | Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Badone B, Ronchi C, Lodola F, Knaust AE, Hansen A, Eschenhagen T, Zaza A., Free PMC Article | 01/15/2022 |
| Arrhythmia Mechanism and Dynamics in a Humanized Mouse Model of Inherited Cardiomyopathy Caused by Phospholamban R14del Mutation. | Arrhythmia Mechanism and Dynamics in a Humanized Mouse Model of Inherited Cardiomyopathy Caused by Phospholamban R14del Mutation.
Raad N, Bittihn P, Cacheux M, Jeong D, Ilkan Z, Ceholski D, Kohlbrenner E, Zhang L, Cai CL, Kranias EG, Hajjar RJ, Stillitano F, Akar FG., Free PMC Article | 01/8/2022 |
| Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. | Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy.
Feyen DAM, Perea-Gil I, Maas RGC, Harakalova M, Gavidia AA, Arthur Ataam J, Wu TH, Vink A, Pei J, Vadgama N, Suurmeijer AJ, Te Rijdt WP, Vu M, Amatya PL, Prado M, Zhang Y, Dunkenberger L, Sluijter JPG, Sallam K, Asselbergs FW, Mercola M, Karakikes I., Free PMC Article | 01/8/2022 |
| Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram? | Computer versus cardiologist: Is a machine learning algorithm able to outperform an expert in diagnosing a phospholamban p.Arg14del mutation on the electrocardiogram?
Bleijendaal H, Ramos LA, Lopes RR, Verstraelen TE, Baalman SWE, Oudkerk Pool MD, Tjong FVY, Melgarejo-Meseguer FM, Gimeno-Blanes FJ, Gimeno-Blanes JR, Amin AS, Winter MM, Marquering HA, Kok WEM, Zwinderman AH, Wilde AAM, Pinto YM. | 11/22/2021 |
| Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation. | Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello F, Knaust AE, Saleem U, Loos M, Raabe J, Mosqueira D, Laufer S, Schweizer M, van der Kraak P, Flenner F, Ulmer BM, Braren I, Yin X, Theofilatos K, Ruiz-Orera J, Patone G, Klampe B, Schulze T, Piasecki A, Pinto Y, Vink A, Hübner N, Harding S, Mayr M, Denning C, Eschenhagen T, Hansen A., Free PMC Article | 10/30/2021 |
| Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction. | Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.
Verstraelen TE, van Lint FHM, Bosman LP, de Brouwer R, Proost VM, Abeln BGS, Taha K, Zwinderman AH, Dickhoff C, Oomen T, Schoonderwoerd BA, Kimman GP, Houweling AC, Gimeno-Blanes JR, Asselbergs FW, van der Zwaag PA, de Boer RA, van den Berg MP, van Tintelen JP, Wilde AAM., Free PMC Article | 09/4/2021 |
| Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers. | Discovering and Visualizing Disease-Specific Electrocardiogram Features Using Deep Learning: Proof-of-Concept in Phospholamban Gene Mutation Carriers.
van de Leur RR, Taha K, Bos MN, van der Heijden JF, Gupta D, Cramer MJ, Hassink RJ, van der Harst P, Doevendans PA, Asselbergs FW, van Es R., Free PMC Article | 06/26/2021 |
| Atomistic Structure and Dynamics of the Ca(2+)-ATPase Bound to Phosphorylated Phospholamban. | Atomistic Structure and Dynamics of the Ca(2+)-ATPase Bound to Phosphorylated Phospholamban.
Aguayo-Ortiz R, Espinoza-Fonseca LM., Free PMC Article | 03/6/2021 |
| Viral expression of a SERCA2a-activating PLB mutant improves calcium cycling and synchronicity in dilated cardiomyopathic hiPSC-CMs. | Viral expression of a SERCA2a-activating PLB mutant improves calcium cycling and synchronicity in dilated cardiomyopathic hiPSC-CMs.
Stroik DR, Ceholski DK, Bidwell PA, Mleczko J, Thanel PF, Kamdar F, Autry JM, Cornea RL, Thomas DD., Free PMC Article | 01/23/2021 |
| The role of phospholamban and GSK3 in regulating rodent cardiac SERCA function. | The role of phospholamban and GSK3 in regulating rodent cardiac SERCA function.
Hamstra SI, Whitley KC, Baranowski RW, Kurgan N, Braun JL, Messner HN, Fajardo VA. | 12/19/2020 |
| the sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA2)-regulating protein phospholamban (PLN) is identified as a physiological SPPL2c substrate. | The intramembrane protease SPPL2c promotes male germ cell development by cleaving phospholamban.
Niemeyer J, Mentrup T, Heidasch R, Müller SA, Biswas U, Meyer R, Papadopoulou AA, Dederer V, Haug-Kröper M, Adamski V, Lüllmann-Rauch R, Bergmann M, Mayerhofer A, Saftig P, Wennemuth G, Jessberger R, Fluhrer R, Lichtenthaler SF, Lemberg MK, Schröder B., Free PMC Article | 05/2/2020 |
| This study contributes to better understanding of the pathogenic mechanisms of the hereditary R9C PLN mutation in the context of human cardiomyocytes. | Functional and transcriptomic insights into pathogenesis of R9C phospholamban mutation using human induced pluripotent stem cell-derived cardiomyocytes.
Ceholski DK, Turnbull IC, Kong CW, Koplev S, Mayourian J, Gorski PA, Stillitano F, Skodras AA, Nonnenmacher M, Cohen N, Björkegren JLM, Stroik DR, Cornea RL, Thomas DD, Li RA, Costa KD, Hajjar RJ., Free PMC Article | 10/26/2019 |
| PLN p.Arg14del cardiomyopathy has a distinct molecular signature in comparison to desmosomal arrhythmogenic cardiomyopathy, with respect to desmosomal protein expression. | Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.
Te Rijdt WP, Asimaki A, Jongbloed JDH, Hoorntje ET, Lazzarini E, van der Zwaag PA, de Boer RA, van Tintelen JP, Saffitz JE, van den Berg MP, Suurmeijer AJH. | 08/3/2019 |
| LV myocardial fibrosis is present in many PLN p.Arg14del mutation carriers, and who still have a preserved LVEF. It is seen predominantly in the LV inferolateral wall and corresponds with electrocardiographic repolarization abnormalities. | Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging.
Te Rijdt WP, Ten Sande JN, Gorter TM, van der Zwaag PA, van Rijsingen IA, Boekholdt SM, van Tintelen JP, van Haelst PL, Planken RN, de Boer RA, Suurmeijer AJH, van Veldhuisen DJ, Wilde AAM, Willems TP, van Dessel PFHM, van den Berg MP. | 06/8/2019 |
| 2 lethal PLN mutations, R9C and R25C, which lead to dilated cardiomyopathy, were studied by biomolecular NMR. R25C enhances phospholmaban dynamics and shifts the conformational equilibrium toward the R state. R9C drives the amphipathic cytoplasmic domain toward the membrane-associate state, enriching the T state. | Effects of the Arg9Cys and Arg25Cys mutations on phospholamban's conformational equilibrium in membrane bilayers.
Nelson SED, Ha KN, Gopinath T, Exline MH, Mascioni A, Thomas DD, Veglia G., Free PMC Article | 08/18/2018 |
| Structure-Function Relationship of the SERCA Pump and Its Regulation by Phospholamban and Sarcolipin. | Structure-Function Relationship of the SERCA Pump and Its Regulation by Phospholamban and Sarcolipin.
Gorski PA, Ceholski DK, Young HS. | 08/18/2018 |