185 Phospholamban R14del Cardiomyopathy: a systematic summary of the pathophysiological mechanisms 7 160. Eijgenraam, T. R. et al. Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy: Development of PLN-R14del-Related Cardiomyopathy. Circ. Heart Fail. 14, e008532 (2021). 161. Te Rijdt, W. P. et al. Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. Histopathology 69, 542–550 (2016). 162. Cohen-Kaplan, V. et al. p62- and ubiquitin-dependent stress-induced autophagy of the mammalian 26S proteasome. Proc. Natl. Acad. Sci. U. S. A. 113, E7490–E7499 (2016). 163. 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). 164. Rothermel, B. A. & Hill, J. A. Myocyte autophagy in heart disease: friend or foe? Autophagy 3, (2007). 165. 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). 166. Eijgenraam, T. R. et al. Protein Aggregation Is an Early Manifestation of Phospholamban p.(Arg14del)-Related Cardiomyopathy: Development of PLN-R14del-Related Cardiomyopathy. Circ. Heart Fail. 14, e008532 (2021). 167. Cuello, F. et al. Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation. EMBO Mol. Med. 13, e13074 (2021). 168. 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. 169. Lopaschuk, G. D., Karwi, Q. G., Tian, R., Wende, A. R. & Dale Abel, E. Cardiac Energy Metabolism in Heart Failure. Circulation Research vol. 128 1487–1513 Preprint at https://doi.org/10.1161/circresaha.121.318241 (2021). 170. Pei, J. et al. Transcriptional regulation profiling reveals disrupted lipid metabolism in failing hearts with a pathogenic phospholamban mutation. bioRxiv 2020.11.30.402792 (2020) doi:10.1101/2020.11.30.402792. 171. Sletten, A. C., Peterson, L. R. & Schaffer, J. E. Manifestations and mechanisms of myocardial lipotoxicity in obesity. J. Intern. Med. 284, 478–491 (2018). 172. Lopaschuk, G. D., Karwi, Q. G., Tian, R., Wende, A. R. & Dale Abel, E. Cardiac Energy Metabolism in Heart Failure. Circulation Research vol. 128 1487–1513 Preprint at https://doi.org/10.1161/circresaha.121.318241 (2021). 173. Cuello, F. et al. Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation. EMBO Mol. Med. 13, e13074 (2021). 174. Ritterhoff, J. & Tian, R. Metabolism in cardiomyopathy: every substrate matters. Cardiovasc. Res. 113, (2017). 175. Sepehrkhouy, S. et al. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm 14, 1024–1032 (2017). 176. 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). 177. Piek, A., de Boer, R. A. & Silljé, H. H. W. The fibrosis-cell death axis in heart failure. Heart Fail. Rev. 21, 199 (2016). 178. Sepehrkhouy, S. et al. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm 14, 1024–1032 (2017). 179. Gho, J. M. I. H. et al. High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy. PLoS One 9, e94820 (2014). 180. Te Rijdt, W. P. et al. Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation. Histopathology 69, 542–550 (2016). 181. Sepehrkhouy, S. et al. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm 14, 1024–1032 (2017). 182. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, (2009). 183. Te Rijdt, W. P. et al. Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging. Eur. Heart J. Cardiovasc. Imaging 20, 92–100 (2019). 184. Posch, M. G. et al. Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. Heart Rhythm 6, (2009). 185. Gho, J. M. I. H. et al. High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del mutation associated cardiomyopathy. PLoS One 9, e94820 (2014).
RkJQdWJsaXNoZXIy MTk4NDMw