Renée Maas

190 Chapter 7 9: Cleary SR, Teng ACT, Kongmeneck AD, Fang X, Phillips TA, Cho EE, Kekenes-Huskey P, Gramolini AO, Robia SL. Dilated cardiomyopathy variant R14del increases phospholamban pentamer stability, blunting dynamic regulation of cardiac calcium handling. bioRxiv [Preprint]. 2023 May 28:2023.05.26.542463. doi: 10.1101/2023.05.26.542463. PMID: 37292897; PMCID: PMC10245957. 10: de Brouwer R, Te Rijdt WP, Hoorntje ET, Amin A, Asselbergs FW, Cox MGPJ, van der Heijden JF, Hillege H, Karper JC, Mahmoud B, van der Meer P, Oomen A, Te Riele ASJM, Silljé HHW, Tan HL, van Tintelen JP, van Veldhuisen DJ, Westenbrink BD, Wiesfeld ACP, Willems TP, van der Zwaag PA, Wilde AAM, de Boer RA, van den Berg MP. A randomized controlled trial of eplerenone in asymptomatic phospholamban p.Arg14del carriers. Eur Heart J. 2023 May 20:ehad292. doi:10.1093/eurheartj/ehad292. Epub ahead of print. PMID: 37210081. 11: Maniezzi, C., Eskandr, M., Florindi, C., Ferrandi, M., Barassi, P., Sacco, E., Pasquale, V., Maione, A. S., Pompilio, G., Oliveira Nunes Teixeira, V., de Boer, R. A., Silljé, H. H., Lodola, F., & Zaza, A. Early consequences of the phospholamban mutation PLN-R14del+/- in a transgenic mouse model. bioRxiv, 2023.04.05.535536. https://doi.org/10.1101/2023.04.05.535536. 12: Vafiadaki E, Glijnis PC, Doevendans PA, Kranias EG, Sanoudou D. Phospholamban R14del disease: The past, the present and the future. Front Cardiovasc Med. 2023 Apr 18;10:1162205. doi: 10.3389/ fcvm.2023.1162205. PMID: 37144056; PMCID:PMC10151546. 13: van der Meer P, van Rooij E, Doevendans PA. Cardiomyopathie door mutatie in het phospholamban-gen [Cardiomyopathy due to a mutation in the phospholamban gene: a high-impact genetic abnormality]. Ned Tijdschr Geneeskd. 2023 Apr 19;167:D7274. Dutch. PMID: 37078560. 14: Kumar M, Haghighi K, Koch S, Rubinstein J, Stillitano F, Hajjar RJ, Kranias EG, Sadayappan S. Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy. Int J Mol Sci. 2023 Jan 31;24(3):2675. doi:10.3390/ijms24032675. PMID: 36768995; PMCID: PMC9917359. 15: Aboumsallem JP, Shi C, De Wit S, Markousis-Mavrogenis G, Bracun V, Eijgenraam TR, Hoes MF, Meijers WC, Screever EM, Schouten ME, Voors AA, Silljé HHW, De Boer RA. Multi-omics analyses identify molecular signatures with prognostic values in different heart failure aetiologies. J Mol Cell Cardiol. 2023 Feb;175:13-28. doi: 10.1016/j.yjmcc.2022.12.001. Epub 2022 Dec 6. PMID:36493852. 16: Rogalska ME, Vafiadaki E, Erpapazoglou Z, Haghighi K, Green L, Mantzoros CS, Hajjar RJ, Tranter M, Karakikes I, Kranias EG, Stillitano F, Kafasla P, Sanoudou D. Isoform changes of action potential regulators in the ventricles of arrhythmogenic phospholamban-R14del humanized mouse hearts. Metabolism. 2023 Jan;138:155344. doi: 10.1016/j.metabol.2022.155344. Epub 2022 Nov 12. PMID:36375644. 17. Jiayi Pei, Renee G.C. Maas, Karen R. Gaar-Humphreys, Johannes M.I.H. Gho, Emilia Nagyova, Christian J.B. Snijders Blok, Iris van Adrichem, René van Es, Shahrzad Sepehrkhouy, Dries Feyen, Noortje A. M. van den Dungen, Nico Lansu, Jorg Calis, Niels van de Kaaij, Nicolaas de Jonge, Linda W. van Laake, Anneline S.J.M. te Riele, Manon M. Huibers, Roel A. de Weger, Marianne C. Verhaar, J. Peter van Tintelen, Frédéric Maxime Vaz, Boudewijn Burgering, Alain van Mil, Jan W. Buikema, Aryan Vink, Ioannis Karakikes, Mark Mercola, Pieter A. Doevendans, Joost P. G. Sluijter, Frank G. van Steenbeek, Caroline Cheng, Michal Mokry, Folkert W. Asselbergs, Magdalena Harakalova. Transcriptional regulation profiling reveals PPARA-mediated fatty acid oxidation as a novel therapeutic target in phospholamban R14del cardiomyopathy, 28 October 2022, PREPRINT (Version 1) available at Research Square [https://doi.org/10.21203/rs.3.rs-1902254/v1] 18: Vafiadaki E, Haghighi K, Arvanitis DA, Kranias EG, Sanoudou D. Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca<sup>2+</sup> Handling and Arrhythmogenesis. Int J Mol Sci. 2022 Jun 22;23(13):6947. doi: 10.3390/ijms23136947. PMID: 35805951; PMCID: PMC9266971. 19: Vera CD, Manhas A, Shenoy SP, Wheeler MT, Sallam K, Wu JC. Generation of two induced pluripotent stem cell lines carrying the phospholamban R14del mutation for modeling ARVD/C. Stem Cell Res. 2022 Aug;63:102834. doi:10.1016/j.scr.2022.102834. Epub 2022 Jun 6. PMID: 35700631; PMCID: PMC9476586. 20: Deiman FE, Bomer N, van der Meer P, Grote Beverborg N. Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del. Curr Heart Fail Rep. 2022 Aug;19(4):170-179. doi: 10.1007/s11897-022-00558-x.Epub 2022 Jun 14. PMID: 35699837; PMCID: PMC9329159.

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