Renée Maas

188 Chapter 7 231. Grote Beverborg, N. et al. Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy. Nat. Commun. 12, 5180 (2021). 232. Dave, J. et al. Gene editing reverses arrhythmia susceptibility in humanized PLN-R14del mice: modeling a European cardiomyopathy with global impact. Cardiovasc. Res. (2022) doi:10.1093/cvr/cvac021. 233. Luo, M. & Anderson, M. E. Mechanisms of altered Ca2+ handling in heart failure. Circ. Res. 113, 690–708 (2013). 234. van der Zwaag, P. A. et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 14, 1199–1207 (2012). 235. Te Rijdt, W. P. et al. Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy. Cardiovasc. Pathol. 30, 23–26 (2017). 236. van der Klooster, Z. J. et al. P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy. J. Cell. Mol. Med. 25, (2021). 237. Feyen, D. A. M. et al. Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. Circulation (2021) doi:10.1161/CIRCULATIONAHA.120.049844. 238. van Rijsingen, I. A. W. et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ. Cardiovasc. Genet. 7, 455–465 (2014). 239. Montag, J. et al. Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy. J. Muscle Res. Cell Motil. 38, (2017). 240. Battle, A., Brown, C. D., Engelhardt, B. E. & Montgomery, S. B. Genetic effects on gene expression across human tissues. Nature 550, (2017). 241. Pinter, S. F. et al. Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome. Genetics 200, (2015). 242. Website. Eerste Nederlandse donorbank voor harten opent volgende week zijn deuren. Stichting PLN http:// plnheart.org/eerste-nederlandse-donorbank-voor-harten-opent-volgende-week-zijn-deuren/ (2020). 243. Kamel, S. M. et al. Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy. Nat. Commun. 12, 7151 (2021). 244. Badone, B. et al. Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem CellDerived Cardiomyocytes. Int. J. Mol. Sci. 22, (2021). 245. Projecten. NWO https://www.nwo.nl/onderzoeksprogrammas/open-technologieprogramma/projecten. 246. From pluripotent stem cells to prime editing gene therapy for inherited cardiomyopathies. ZonMw Projects https://projecten.zonmw.nl/nl/project/pluripotent-stem-cells-prime-editing-gene-therapy-inheritedcardiomyopathies. 247. ^ES. EU Horizon grant for NLHI coordinated consortium Geremy. Netherlands Heart Institute https://heartinstitute.nl/eu-horizon-grant-for-nlhi-coordinated-consortium-geremy/ (2023). 248. Feyen, D. A. M. et al. Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy. Circulation (2021) doi:10.1161/CIRCULATIONAHA.120.049844. 249. Menzel, J. et al. 14-3-3 binding creates a memory of kinase action by stabilizing the modified state of phospholamban. Sci. Signal. 13, (2020). 250. Cuello, F. et al. Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation. EMBO Mol. Med. 13, e13074 (2021). 251. Clauss, S. et al. Characterization of a porcine model of atrial arrhythmogenicity in the context of ischaemic heart failure. PLoS One 15, (2020).

RkJQdWJsaXNoZXIy MTk4NDMw