Renée Maas

191 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 21: Eijgenraam TR, Stege NM, Oliveira Nunes Teixeira V, de Brouwer R, Schouten EM, Grote Beverborg N, Sun L, Später D, Knöll R, Hansson KM, Amilon C, Janzén D, Yeh ST, Mullick AE, van der Meer P, de Boer RA, Silljé HHW. Antisense Therapy Attenuates Phospholamban p.(Arg14del) Cardiomyopathy in Mice and Reverses Protein Aggregation. Int J Mol Sci. 2022 Feb 22;23(5):2427. doi: 10.3390/ijms23052427. PMID: 35269571; PMCID: PMC8909937. 22. Monda, E.; Blasi, E.; De Pasquale, A.; Di Vilio, A.; Amodio, F.; Caiazza, M.; Diana, G.; Lioncino, M.; Perna, A.; Verrillo, F.; et al. Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review. Cardiogenetics 2022, 12, 112-121. https://doi.org/10.3390/ cardiogenetics12010012 23: Mittal N, Dave J, Harakalova M, van Tintelen JP, Asselbergs FW, Doevendans PA, Costa KD, Turnbull IC, Stillitano F. Generation of human induced pluripotent stem cell (iPSC) lines derived from five patients carrying the pathogenic phospholamban-R14del (PLN-R14del) variant and three non-carrier family members. Stem Cell Res. 2022 Apr;60:102737. doi: 10.1016/j.scr.2022.102737. Epub 2022 Mar 1. PMID: 35247838. 24: Dave J, Raad N, Mittal N, Zhang L, Fargnoli A, Oh JG, Savoia ME, Hansen J, Fava M, Yin X, Theofilatos K, Ceholski D, Kohlbrenner E, Jeong D, Wills L, Nonnenmacher M, Haghighi K, Costa KD, Turnbull IC, Mayr M, Cai CL, Kranias EG, Akar FG, Hajjar RJ, Stillitano F. Gene editing reverses arrhythmia susceptibility in humanized PLN-R14del mice: modeling a European cardiomyopathy with global impact. Cardiovasc Res. 2022 Feb 22:cvac021. doi:10.1093/cvr/cvac021. Epub ahead of print. PMID: 35191471. 25: van der Voorn SM, Bourfiss M, Te Riele ASJM, Taha K, Vos MA, de Brouwer R, Verstraelen TE, de Boer RA, Remme CA, van Veen TAB. Exploring the Correlation Between Fibrosis Biomarkers and Clinical Disease Severity in PLN p.Arg14del Patients. Front Cardiovasc Med. 2022 Jan 13;8:802998. doi: 10.3389/ fcvm.2021.802998. PMID: 35097021; PMCID: PMC8793805. 26: Driessen HE, van der Voorn SM, Bourfiss M, van Lint FHM, Mirzad F, Onsri LE, Vos MA, van Veen TAB. Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy. Int J Mol Sci.2021 Dec 21;23(1):57. doi: 10.3390/ijms23010057. PMID: 35008484; PMCID: PMC8744793. 27: Badone B, Ronchi C, Lodola F, Knaust AE, Hansen A, Eschenhagen T, Zaza A. Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes. Int J Mol Sci. 2021 Dec 16;22(24):13500. doi:10.3390/ijms222413500. PMID: 34948294; PMCID: PMC8709382. 28: de Boer RA, Heymans S, Backs J, Carrier L, Coats AJS, Dimmeler S, Eschenhagen T, Filippatos G, Gepstein L, Hulot JS, Knöll R, Kupatt C, Linke WA, Seidman CE, Tocchetti CG, van der Velden J, Walsh R, Seferovic PM, Thum T. Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC). Eur J Heart Fail. 2022 Mar;24(3):406-420. doi: 10.1002/ejhf.2414. Epub 2022 Jan 14. PMID: 34969177; PMCID: PMC9305112. 29: Tabata T, Kuramoto Y, Ohtani T, Miyawaki H, Miyashita Y, Sera F, Kioka H, Higo S, Asano Y, Hikoso S, Sakata Y. Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series. Intern Med. 2022 Jul 1;61(13):1987-1993. doi:10.2169/internalmedicine.8594-21. Epub 2021 Dec 18. PMID: 34924461; PMCID:PMC9334245. 30: 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. Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy. Nat Commun. 2021 Dec 9;12(1):7151. doi: 10.1038/s41467-021-27461-8. PMID: 34887420; PMCID: PMC8660846. 31: de Brouwer R, Meems LMG, Verstraelen TE, Mahmoud B, Proost V, Wilde AAM, Bosman LP, van Drie E, van der Zwaag PA, van Tintelen JP, Houweling AC, van den Berg MP, de Boer RA. Sex-specific aspects of phospholamban cardiomyopathy: The importance and prognostic value of low-voltage electrocardiograms. Heart Rhythm. 2022 Mar;19(3):427-434. doi: 10.1016/j.hrthm.2021.11.009. Epub 2021 Nov 9. PMID:34767988.

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