257 Unfolded Protein Response in PLN R14del Cardiomyopathy 9 REFERENCES 1. MacLennan DH, Kranias EG. Phospholamban: a crucial regulator of cardiac contractility. Nat Rev Mol Cell Biol. 2003;4:566–577. doi: 10.1038/nrm1151 2. Rosenbaum AN, Agre KE, Pereira NL. Genetics of dilated cardiomyopathy: practical implications for heart failure management. Nat Rev Cardiol.2020;17:286–297. doi: 10.1038/s41569-019-0284-0 3. Haghighi K, Kolokathis F, Gramolini AO, Waggoner JR, Pater L, Lynch RA, Fan GC, Tsiapras D, Parekh RR, Dorn GW 2nd, et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci USA. 2006;103:1388–1393. doi: 10.1073/pnas.0510519103 4. van der Zwaag PA, van Rijsingen IA, Asimaki A, Jongbloed JD, van Veldhuisen DJ, Wiesfeld AC, Cox MG, van Lochem LT, de Boer RA, Hofstra RM, 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. 2012;14:1199–1207. doi: 10.1093/eurjhf/hfs119 5. Stillitano F, Turnbull IC, Karakikes I, Nonnenmacher M, Backeris P, Hulot JS, Kranias EG, Hajjar RJ, Costa KD. Genomic correction of familial cardiomyopathy in human engineered cardiac tissues. Eur Heart J. 2016;37:3282– 3284. doi: 10.1093/eurheartj/ehw307 6. Friedman CE, Nguyen Q, Lukowski SW, Helfer A, Chiu HS, Miklas J, Levy S, Suo S, Han JJ, Osteil P, et al. Single-cell transcriptomic analysis of cardiac differentiation from human PSCs reveals HOPX-dependent cardiomyocyte maturation. Cell Stem Cell. 2018;23:586–598.e8. doi: 10.1016/j.stem.2018.09.009 7. Iwawaki T, Akai R, Kohno K, Miura M. A transgenic mouse model for monitoring endoplasmic reticulum stress. Nat Med. 2004;10:98–102. doi: 10.1038/nm970 8. Ayala P, Montenegro J, Vivar R, Letelier A, Urroz PA, Copaja M, Pivet D, Humeres C, Troncoso R, Vicencio JM, et al. Attenuation of endoplasmic reticulum stress using the chemical chaperone 4-phenylbutyric acid prevents cardiac fibrosis induced by isoproterenol. Exp Mol Pathol. 2012;92:97–104. doi: 10.1016/j.yexmp.2011.10.012 9. Zhuo XZ, Wu Y, Ni YJ, Liu JH, Gong M, Wang XH, Wei F, Wang TZ, Yuan Z, Ma AQ, et al. Isoproterenol instigates cardiomyocyte apoptosis and heart failure via AMPK inactivation-mediated endoplasmic reticulum stress. Apoptosis. 2013;18:800–810. doi: 10.1007/s10495-013-0843-5 10. Hetz C, Saxena S. ER stress and the unfolded protein response in neurodegeneration. Nat Rev Neurol. 2017;13:477–491. doi: 10.1038/nrneurol.2017.99 11. Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, Kong CW, Rushing S, Hansen J, Ceholski D, et al. Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy. Nat Commun. 2015;6:6955. doi: 10.1038/ncomms7955 12. Te Rijdt WP, van der Klooster ZJ, Hoorntje ET, Jongbloed JDH, van der Zwaag PA, Asselbergs FW, Dooijes D, de Boer RA, van Tintelen JP, van den Berg MP, et al. Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy. Cardiovasc Pathol. 2017;30:23– 26. doi: 10.1016/j.carpath.2017.05.004 13. Te Rijdt WP, van Tintelen JP, Vink A, van der Wal AC, de Boer RA, van den Berg MP, Suurmeijer AJ. Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. Histopathology. 2016;69:542–550. doi: 10.1111/his.12963 14. Bertolotti A, Zhang Y, Hendershot LM, Harding HP, Ron D. Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response. Nat Cell Biol. 2000;2:326–332. doi: 10.1038/35014014 15. Patil C, Walter P. Intracellular signaling from the endoplasmic reticulum to the nucleus: the unfolded protein response in yeast and mammals. Curr Opin Cell Biol. 2001;13:349–355. doi: 10.1016/s0955-0674(00)00219-2 16. Gao G, Xie A, Zhang J, Herman AM, Jeong EM, Gu L, Liu M, Yang KC, Kamp TJ, Dudley SC. Unfolded protein response regulates cardiac sodium current in systolic human heart failure. Circ Arrhythm Electrophysiol. 2013;6:1018–1024. doi: 10.1161/CIRCEP.113.000274 17. Okada K, Minamino T, Tsukamoto Y, Liao Y, Tsukamoto O, Takashima S, Hirata A, Fujita M, Nagamachi Y, Nakatani T, et al. Prolonged endoplasmic reticulum stress in hypertrophic and failing heart after aortic constriction: possible contribution of endoplasmic reticulum stress to cardiac myocyte apoptosis. Circulation. 2004;110:705– 712. doi: 10.1161/01.CIR.0000137836.95625.D4
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