Renée Maas

183 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 112. Bers, D. M., Despa, S. & Bossuyt, J. Regulation of Ca2+ and Na+ in normal and failing cardiac myocytes. Ann. N. Y. Acad. Sci. 1080, (2006). 113. Tada, M. & Toyofuku, T. Molecular regulation of phospholamban function and expression. Trends Cardiovasc. Med. 8, (1998). 114. Shah, D. et al. Modeling of -Related Dilated Cardiomyopathy Using Human Induced Pluripotent Stem Cells. Cells 8, (2019). 115. Lan, F. et al. Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. Cell Stem Cell 12, (2013). 116. Taha, K. et al. Early Mechanical Alterations in Phospholamban Mutation Carriers: Identifying Subclinical Disease Before Onset of Symptoms. JACC Cardiovasc. Imaging 14, 885–896 (2021). 117. Weber, D. K. et al. Structural basis for allosteric control of the SERCA-Phospholamban membrane complex by Ca and phosphorylation. Elife 10, (2021). 118. Vostrikov, V. V., Soller, K. J., Ha, K. N., Gopinath, T. & Veglia, G. Effects of naturally occurring arginine 14 deletion on phospholamban conformational dynamics and membrane interactions. Biochim. Biophys. Acta 1848, 315–322 (2015). 119. Kim, J. et al. Dysfunctional conformational dynamics of protein kinase A induced by a lethal mutant of phospholamban hinder phosphorylation. Proc. Natl. Acad. Sci. U. S. A. 112, 3716–3721 (2015). 120. Laver, D. R. Ca2+ stores regulate ryanodine receptor Ca2+ release channels via luminal and cytosolic Ca2+ sites. Clin. Exp. Pharmacol. Physiol. 34, (2007). 121. Haghighi, K. et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Natl. Acad. Sci. U. S. A. 103, (2006). 122. Vafiadaki, E., Haghighi, K., Arvanitis, D. A., Kranias, E. G. & Sanoudou, D. Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca Handling and Arrhythmogenesis. Int. J. Mol. Sci. 23, (2022). 123. ter Keurs, H. E., Zhang, Y. M. & Miura, M. Damage-induced arrhythmias: reversal of excitation-contraction coupling. Cardiovasc. Res. 40, (1998). 124. ter Keurs, H. E. The interaction of Ca2+ with sarcomeric proteins: role in function and dysfunction of the heart. Am. J. Physiol. Heart Circ. Physiol. 302, (2012). 125. Mark D. McCauley, X. H. T. W. Ryanodine Receptor Phosphorylation, Calcium/Calmodulin-dependent Protein Kinase II, and Life-threatening Ventricular Arrhythmias. Trends Cardiovasc. Med. 21, 48 (2011). 126. Badone, B. et al. Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem CellDerived Cardiomyocytes. Int. J. Mol. Sci. 22, (2021). 127. Becucci, L. et al. On the Function of Pentameric Phospholamban: Ion Channel or Storage Form? Biophys. J. 96, L60–L62 (2009). 128. Smeazzetto, S., Henkel, M., Ferri, T., Thiel, G. & Moncelli, M. R. Ion Channel Activity of Pentameric Phospholamban. Biophys. J. 98, 328a (2010). 129. Glaves, J. P., Primeau, J. O., Espinoza-Fonseca, L. M., Lemieux, M. J. & Young, H. S. The Phospholamban Pentamer Alters Function of the Sarcoplasmic Reticulum Calcium Pump SERCA. Biophys. J. 116, (2019). 130. Kimura, Y., Kurzydlowski, K., Tada, M. & MacLennan, D. H. Phospholamban inhibitory function is activated by depolymerization. J. Biol. Chem. 272, 15061–15064 (1997). 131. Kovacs, R. J., Nelson, M. T., Simmerman, H. K. & Jones, L. R. Phospholamban forms Ca2+-selective channels in lipid bilayers. J. Biol. Chem. 263, 18364–18368 (1988). 132. Oxenoid, K. & Chou, J. J. The structure of phospholamban pentamer reveals a channel-like architecture in membranes. Proc. Natl. Acad. Sci. U. S. A. 102, (2005). 133. Becucci, L. et al. On the Function of Pentameric Phospholamban: Ion Channel or Storage Form? Biophys. J. 96, L60–L62 (2009). 134. Glaves, J. P., Primeau, J. O., Espinoza-Fonseca, L. M., Lemieux, M. J. & Young, H. S. The Phospholamban Pentamer Alters Function of the Sarcoplasmic Reticulum Calcium Pump SERCA. Biophys. J. 116, (2019). 135. Akin, B. L., Hurley, T. D., Chen, Z. & Jones, L. R. The structural basis for phospholamban inhibition of the calcium pump in sarcoplasmic reticulum. J. Biol. Chem. 288, 30181–30191 (2013).

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