Unexpected Impairment of INa current Underpins Reentrant Arrhythmias in a Knock-in Swine Model of Timothy Syndrome

Autor: Andreu Porta-Sanchez, Andrea Mazzanti, Carmen Tarifa-Lora, Deni Kukavica, Alessandro Trancuccio, Muhammad Mohsin, Elisa Zanfrini, Andrea Perota, Roberto Duchi, Kevin Hernandez-Lopez, Eugenio Fernandez-Moya, Rossana Bongianino, Elisa Tavazzani, Simone Scacchi, Luca Pavarino, Piero Colli Franzone, Giovanni Lentini, David Filgueiras-Rama, Cesare Galli, Demetrio Santiago, Silvia Priori

Timothy Syndrome 1 (TS1) is a multiorgan form of Long QT Syndrome associated with life-threatening cardiac arrhythmias, the organ-level dynamics of which remain unclear. Here, we developed and characterized a novel porcine model of TS1 carrying the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0612b65db538b8b9a76f41ca0a8ce8db
https://doi.org/10.21203/rs.3.rs-2482900/v1

Contributors

Autor: Philip Aagaard, Dominic James Abrams, Hugues Abriel, Wayne O. Adkisson, Esperanza Agullo-Pascual, Francisco J. Alvarado, Ahmad S. Amin, Charles Antzelevitch, Justus M.B. Anumonwo, Luciana Armaganijan, Arash Arya, Samuel Asirvatham, Felipe Atienza, Peter H. Backx, Lisa M. Ballou, Elise Balse, Sujata Balulad, Andrea Barbuti, Gust H. Bardy, Guillaume Bassil, David G. Benditt, Omer Berenfeld, Donald M. Bers, Ofer Binah, Frank Bogun, Rossana Bongianino, Noel G. Boyle, Patrick M. Boyle, Günter Breithardt, Marisa Brini, Peter R. Brink, Pedro Brugada, Eric Buch, Feliksas F. Bukauskas, Hugh Calkins, David J. Callans, Sean M. Caples, Ernesto Carafoli, William A. Catterall, Marina Cerrone, Arnaud Chaumeil, Caressa Chen, Lan S. Chen, Peng-Sheng Chen, Jianding Cheng, Nipavan Chiamvimonvat, David J. Christini, Aman Chugh, Andreu M. Climent, Ira S. Cohen, Stuart J. Connolly, Lebron Cooper, Eric M. Crespo, Lia Crotti, Thomas A. Csepe, Frank Cuoco, Anne B. Curtis, Ralph J. Damiano, Dawood Darbar, Mithilesh K. Das, Andre d’Avila, Mario Delmar, Eva Delpón, Marco Denegri, Arnaud Denis, Nicolas Derval, Isabelle Deschênes, Abhishek Deshmukh, Luigi Di Biase, Timm M. Dickfeld, Hans Dierckx, Borislav Dinov, Sanjay Dixit, Dobromir Dobrev, Remi Dubois, Lars Eckardt, Andrew G. Edwards, Kenneth A. Ellenbogen, Patrick T. Ellinor, N.A. Mark Estes, Larissa Fabritz, Vadim V. Fedorov, Antonio B. Fernandez, Elvis Teijeira Fernández, David Filgueiras-Rama, Michael C. Fishbein, Glenn I. Fishman, David S. Frankel, Paul Friedman, Antonio Frontera, Apoor S. Gami, Paul Garabelli, Alfred L. George, Edward P. Gerstenfeld, Sigfus Gizurarson, Michael R. Gold, Jeffrey J. Goldberger, Andrew Grace, Guido Grassi, Ruth Ann Greenfield, Wendy L. Gross, Blair P. Grubb, María S. Guillem, Sándor Györke, Michel Haïssaguerre, Johan Hake, Henry R. Halperin, Brian J. Hansen, Stéphane Hatem, David L. Hayes, Jordi Heijman, Todd J. Herron, Gerhard Hindricks, Mélèze Hocini, Stefan H. Hohnloser, David R. Holmes, Masahiko Hoshijima, Thomas J. Hund, Mathew D. Hutchinson, Leonard Ilkhanoff, Jodie Ingles, James E. Ip, Warren M. Jackman, Nicholas Jackson, Pierre Jaïs, José Jalife, Bong Sook Jhun, Roy M. John, Monique Jongbloed, Luc Jordaens, Jonathan M. Kalman, Timothy J. Kamp, Mohamed H. Kanj, Suraj Kapa, Beverly Karabin, Ioannis Karakikes, Demosthenes G. Katritsis, Kuljeet Kaur, Paulus Kirchhof, André G. Kléber, George J. Klein, Peter Kohl, Jayanthi N. Koneru, Jacob S. Koruth, Andrew D. Krahn, Trine Krogh-Madsen, Karl Heinz Kuck, Saurabh Kumar, Alexander Kushnir, Neal K. Lakdawala, Zachary W.M. Laksman, Rakesh Latchamsetty, Dennis H. Lau, Bruce B. Lerman, Richard Z. Lin, Shien-Fong Lin, Mark S. Link, Bin Liu, Christopher F. Liu, Deborah J. Lockwood, Anatoli N. Lopatin, Steven A. Lubitz, Rajiv Mahajan, Jonathan C. Makielski, Marek Malik, Francis E. Marchlinski, Steven M. Markowitz, Barry J. Maron, Martin S. Maron, Steven O. Marx, Stéphane Massé, Andrew D. McCulloch, Pippa McKelvie-Sebileau, Spencer J. Melby, Andreas Metzner, Anushka P. Michailova, Gregory F. Michaud, John M. Miller, Jyotsna Mishra, Raul D. Mitrani, Peter J. Mohler, Fred Morady, Robert J. Myerburg, Hiroshi Nakagawa, Chrishan Joseph Nalliah, Kumaraswamy Nanthakumar, Carlo Napolitano, Sanjiv M. Narayan, Andrea Natale, Stanley Nattel, Saman Nazarian, Thao P. Nguyen, Akihiko Nogami, Sami F. Noujaim, Karine Nubret Le Coniat, Brian Olshansky, Jin O-Uchi, Gavin Y. Oudit, Feifan Ouyang, Cevher Ozcan, Douglas L. Packer, Sandeep V. Pandit, Alexander V. Panfilov, David S. Park, Bence Patocskai, Dainius H. Pauza, Neringa Pauziene, Jonathan P. Piccini, Geoffrey S. Pitt, Sunny S. Po, Abhiram Prasad, Silvia G. Priori, Przemysław B. Radwański, Wouter-Jan Rappel, Michelle Reiser, Alejandro Jimenez Restrepo, Richard B. Robinson, Dan M. Roden, Michael R. Rosen, Raphael Rosso, Yoram Rudy, Kristina Rysevaite-Kyguoliene, Hani N. Sabbah, Frederic Sacher, Frank B. Sachse, Ardan M. Saguner, Prashanthan Sanders, Michael C. Sanguinetti, Pasquale Santangeli, Mohammad Sarraf, Jonathan Satin, Martin Jan Schalij, Benjamin J. Scherlag, Matthew R. Schill, J. William Schleifer, Richard B. Schuessler, Peter J. Schwartz, Timon Seeger, Christopher Semsarian, Gino Seravalle, Ashok J. Shah, Robin M. Shaw, Mark J. Shen, Win–Kuang Shen, Shey-Shing Sheu, Kalyanam Shivkumar, Jennifer N.A. Silva, Allan C. Skanes, Kyoko Soejima, Virend K. Somers, Dan Sorajja, Stavros Stavrakis, Christian Steinberg, Lynne Warner Stevenson, William G. Stevenson, Michael O. Sweeney, Charles Swerdlow, Masateru Takigawa, Juan Tamargo, Harikrishna Tandri, Usha B. Tedrow, Nathaniel Thompson, Paul D. Thompson, Gordon F. Tomaselli, Jeffrey A. Towbin, Natalia A. Trayanova, Martin Tristani-Firouzi, Zian H. Tseng, Akiko Ueda, Héctor H. Valdivia, Virginijus Valiunas, Christian van der Werf, George F. Van Hare, David Vidmar, Sami Viskin, Niels Voigt, Edward P. Walsh, Paul J. Wang, Xander H.T. Wehrens, Mark S. Weiss, Arthur A.M. Wilde, Bruce L. Wilkoff, Y. Joseph Woo, Joseph C. Wu, Raymond Yee, Junaid A.B. Zaman, Manuel Zarzoso, Emily P. Zeitler, Katja Zeppenfeld, Tarek Zghaib, Xiao-Dong Zhang, Douglas P. Zipes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fab4ee29dfe8ad101dc70bbf60b53eab
https://doi.org/10.1016/b978-0-323-44733-1.01002-6

Allele-Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene ( RYR2 )Novelty and Significance

Autor: Rossana Bongianino, Marco Denegri, Andrea Mazzanti, Francesco Lodola, Alessandra Vollero, Simona Boncompagni, Silvia Fasciano, Giulia Rizzo, Damiano Mangione, Serena Barbaro, Alessia Di Fonso, Carlo Napolitano, Alberto Auricchio, Feliciano Protasi, Silvia G. Priori

Publikováno v: Circulation Research

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=r3c4b2081b22::8de2acb4ac18e230d0fb9bc9167a06b6

Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive Catecholaminergic Polymorphic Ventricular Tachycardia

Autor: Silvia G. Priori, Rosanna Gosetti, Francesco Lodola, Elisa Di Pasquale, Gianluigi Condorelli, Carlo Napolitano, Hiroko Nakahama, Rossana Bongianino, Michelangelo Buonocore, Diego Morone, Alessandra Vollero, Lucia Rutigliano, Giulia Rizzo, Marco Denegri

Publikováno v: Cell Death & Disease

Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) is a highly lethal recessive arrhythmogenic disease caused by mutations in the calsequestrin-2 (CASQ2) gene. We have previously demonstrated that viral transfer of the wild-type (WT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116f6f86eb06f76651bc0bd3ddbde362
http://hdl.handle.net/10281/276125

Gene therapy to treat cardiac arrhythmias

Autor: Rossana Bongianino, Silvia G. Priori

Publikováno v: Nature reviews. Cardiology. 12(9)

Gene therapy to treat electrical dysfunction of the heart is an appealing strategy because of the limited therapeutic options available to manage the most-severe cardiac arrhythmias, such as ventricular tachycardia, ventricular fibrillation, and asys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1025190c5c52b16241b5d122d8d7bf13
https://pubmed.ncbi.nlm.nih.gov/25917154