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Items: 1 to 20 of 215

1.
Impaired Dynamic Sarcoplasmic Reticulum Ca Buffering in Autosomal Dominant CPVT2
Matthew J. Wleklinski, Dmytro O. Kryshtal, Kyungsoo Kim, Shan S. Parikh, Daniel J. Blackwell, Isabelle Marty, V. Ramesh Iyer, Bjӧrn C. Knollmann
Circ Res. Author manuscript; available in PMC 2023 Sep 30.
Published in final edited form as: Circ Res. 2022 Sep 30; 131(8): 673–686. Published online 2022 Sep 14. doi: 10.1161/CIRCRESAHA.121.320661
PMCID:
PMC9529867
ArticlePDF–2.3M
2.
Conditional ablation and conditional rescue models for Casq2 elucidate the role of development and of cell-type specific expression of Casq2 in the CPVT2 phenotype
Daniel J Flores, ThuyVy Duong, Luke O Brandenberger, Apratim Mitra, Aditya Shirali, John C Johnson, Danielle Springer, Audrey Noguchi, Zu-Xi Yu, Steven N Ebert, Andreas Ludwig, Bjorn C Knollmann, Mark D Levin, Karl Pfeifer
Hum Mol Genet. 2018 May 1; 27(9): 1533–1544. Published online 2018 Feb 14. doi: 10.1093/hmg/ddy060
PMCID:
PMC5905597
ArticlePDF–816K
3.
Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations
Atara Novak, Lili Barad, Avraham Lorber, Mihaela Gherghiceanu, Irina Reiter, Binyamin Eisen, Liron Eldor, Joseph Itskovitz-Eldor, Michael Eldar, Michael Arad, Ofer Binah
J Cell Mol Med. 2015 Aug; 19(8): 2006–2018. Published online 2015 Jul 8. doi: 10.1111/jcmm.12581
PMCID:
PMC4549051
ArticlePDF–1.7M
4.
The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2)
Guy Katz, Asher Shainberg, Edith Hochhauser, Efrat Kurtzwald-Josefson, Ahuva Issac, Dalia El-Ani, Dan Aravot, Arnon Afek, Jonathan G. Seidman, Christine E. Seidman, Michael Eldar, Michael Arad
Biochem Pharmacol. Author manuscript; available in PMC 2014 Jul 18.
Published in final edited form as: Biochem Pharmacol. 2013 Dec 1; 86(11): 1576–1583. Published online 2013 Sep 23. doi: 10.1016/j.bcp.2013.09.012
PMCID:
PMC4103182
ArticlePDF–999K
5.
Pacing Dynamics Determines the Arrhythmogenic Mechanism of the CPVT2-Causing CASQ2G112+5X Mutation in a Guinea Pig Ventricular Myocyte Computational Model
Roshan Paudel, Mohsin Saleet Jafri, Aman Ullah
Genes (Basel) 2023 Jan; 14(1): 23. Published online 2022 Dec 22. doi: 10.3390/genes14010023
PMCID:
PMC9858930
ArticlePDF–9.2M
6.
SR-Mitochondria Crosstalk Shapes Ca Signalling to Impact Pathophenotype in Disease Models Marked by Dysregulated Intracellular Ca Release
Brian D Tow, Arpita Deb, Shraddha Neupane, Shuchi M Patel, Meagan Reed, Anna-Beth Loper, Roman A Eliseev, Björn C Knollmann, Sándor Györke, Bin Liu
Cardiovasc Res. 2022 Sep; 118(13): 2819–2832. Published online 2021 Oct 22. doi: 10.1093/cvr/cvab324
PMCID:
PMC9724772
ArticlePDF–1.3M
7.
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
Thomas M Roston, Zhiguang Yuchi, Prince J Kannankeril, Julie Hathaway, Jeffrey M Vinocur, Susan P Etheridge, James E Potts, Kathleen R Maginot, Jack C Salerno, Mitchell I Cohen, Robert M Hamilton, Andreas Pflaumer, Saira Mohammed, Lynn Kimlicka, Ronald J Kanter, Martin J LaPage, Kathryn K Collins, Roman A Gebauer, Joel D Temple, Anjan S Batra, Christopher Erickson, Maria Miszczak-Knecht, Peter Kubuš, Yaniv Bar-Cohen, Michal Kantoch, Vincent C Thomas, Gabriele Hessling, Chris Anderson, Ming-Lon Young, Sally H J Choi, Michel Cabrera Ortega, Yung R Lau, Christopher L Johnsrude, Anne Fournier, Filip Van Petegem, Shubhayan Sanatani
Europace. 2018 Mar; 20(3): 541–547. Published online 2017 Jan 31. doi: 10.1093/europace/euw389
PMCID:
PMC6059141
ArticlePDF–421K
8.
SK4 K+ channels are therapeutic targets for the treatment of cardiac arrhythmias
Shiraz Haron‐Khun, David Weisbrod, Hanna Bueno, Dor Yadin, Joachim Behar, Asher Peretz, Ofer Binah, Edith Hochhauser, Michael Eldar, Yael Yaniv, Michael Arad, Bernard Attali
EMBO Mol Med. 2017 Apr; 9(4): 415–429. Published online 2017 Feb 20. doi: 10.15252/emmm.201606937
PMCID:
PMC5376763
ArticlePDF–2.4M
9.
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardia
Francesco Lodola, Diego Morone, Marco Denegri, Rossana Bongianino, Hiroko Nakahama, Lucia Rutigliano, Rosanna Gosetti, Giulia Rizzo, Alessandra Vollero, Michelangelo Buonocore, Carlo Napolitano, Gianluigi Condorelli, Silvia G Priori, Elisa Di Pasquale
Cell Death Dis. 2016 Oct; 7(10): e2393. Published online 2016 Oct 6. doi: 10.1038/cddis.2016.304
PMCID:
PMC5133973
ArticlePDF–2.9M
10.
Glycosylation of Skeletal Calsequestrin: IMPLICATIONS FOR ITS FUNCTION
Emiliano J. Sanchez, Kevin M. Lewis, Gerhard R. Munske, Mark S. Nissen, ChulHee Kang
J Biol Chem. 2012 Jan 27; 287(5): 3042–3050. Published online 2011 Dec 14. doi: 10.1074/jbc.M111.326363
PMCID:
PMC3270961
ArticlePDF–2.1M
11.
Patient Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Drug Development and Screening In Catecholaminergic Polymorphic Ventricular Tachycardia
Ronen Ben Jehuda, Lili Barad
J Atr Fibrillation. 2016 Aug-Sep; 9(2): 1423. Published online 2016 Aug 31. doi: 10.4022/jafib.1423
PMCID:
PMC5129686
ArticlePDF–1.5M
12.
Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice
Guy Katz, Assad Khoury, Efrat Kurtzwald, Edith Hochhauser, Eyal Porat, Asher Shainberg, Jonathan G. Seidman, Christine E. Seidman, Abraham Lorber, Michael Eldar, Michael Arad
Heart Rhythm. Author manuscript; available in PMC 2014 Jul 18.
Published in final edited form as: Heart Rhythm. 2010 Nov; 7(11): 1676–1682. Published online 2010 Jul 8. doi: 10.1016/j.hrthm.2010.07.004
PMCID:
PMC4103178
ArticlePDF–603K
13.
The Structural–Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications
Chiara Marabelli, Demetrio J. Santiago, Silvia G. Priori
Biomolecules. 2023 Dec; 13(12): 1693. Published online 2023 Nov 23. doi: 10.3390/biom13121693
PMCID:
PMC10741413
ArticlePDF–9.2M
14.
Clinical and genetic profiles of chinese pediatric patients with catecholaminergic polymorphic ventricular tachycardia
Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang
Orphanet J Rare Dis. 2023; 18: 380. Published online 2023 Dec 5. doi: 10.1186/s13023-023-02991-0
PMCID:
PMC10696677
ArticlePDF–1.3M
15.
Insights on the mechanism of flecainide in catecholaminergic polymorphic ventricular tachycardia
Ross Davidson, Maria Medeiros
J Med Life. 2023 Aug; 16(8): 1294–1296. doi: 10.25122/jml-2023-0191
PMCID:
PMC10652680
ArticlePDF–161K
16.
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Lia Crotti, Carla Spazzolini, Mette Nyegaard, Michael T Overgaard, Maria-Christina Kotta, Federica Dagradi, Luca Sala, Takeshi Aiba, Mark D Ayers, Anwar Baban, Julien Barc, Cheyenne M Beach, Elijah R Behr, J Martijn Bos, Marina Cerrone, Peter Covi, Bettina Cuneo, Isabelle Denjoy, Birgit Donner, Adrienne Elbert, Håkan Eliasson, Susan P Etheridge, Megumi Fukuyama, Francesca Girolami, Robert Hamilton, Minoru Horie, Maria Iascone, Juan Jiménez Jaimez, Henrik Kjærulf Jensen, Prince J Kannankeril, Juan P Kaski, Naomasa Makita, Carmen Muñoz-Esparza, Hans H Odland, Seiko Ohno, John Papagiannis, Alessandra Pia Porretta, Christopher Prandstetter, Vincent Probst, Tomas Robyns, Eric Rosenthal, Ferran Rosés-Noguer, Nicole Sekarski, Anoop Singh, Georgia Spentzou, Fridrike Stute, Jacob Tfelt-Hansen, Jan Till, Kathryn E Tobert, Jeffrey M Vinocur, Gregory Webster, Arthur A M Wilde, Cordula M Wolf, Michael J Ackerman, Peter J Schwartz
Eur Heart J. 2023 Sep 14; 44(35): 3357–3370. Published online 2023 Aug 2. doi: 10.1093/eurheartj/ehad418
PMCID:
PMC10499544
ArticlePDF–1.7M
17.
Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death
Yunyun Qian, Dongchuan Zuo, Jing Xiong, Yihen Yin, Ruxi Qi, Xiaomin Ma, An Yan, Yawen Yang, Ping Liu, Jingying Zhang, Kai Tang, Wenhui Peng, Yawei Xu, Zheng Liu
Europace. 2023 Jul; 25(7): euad220. Published online 2023 Jul 19. doi: 10.1093/europace/euad220
PMCID:
PMC10374982
ArticlePDF–17M
18.
Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation–contraction coupling to mutations that cause inherited arrhythmia
Joshua A. Keefe, Oliver M. Moore, Kevin S. Ho, Xander H. T. Wehrens
Arch Toxicol. Author manuscript; available in PMC 2023 Apr 23.
Published in final edited form as: Arch Toxicol. 2023 Jan; 97(1): 73–92. Published online 2022 Oct 10. doi: 10.1007/s00204-022-03385-0
PMCID:
PMC10122835
ArticlePDF–943K
19.
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy
Stéphane Zaffran, Lilia Kraoua, Hager Jaouadi
Int J Mol Sci. 2023 Feb; 24(4): 3365. Published online 2023 Feb 8. doi: 10.3390/ijms24043365
PMCID:
PMC9963263
ArticlePDF–366K
20.
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia
Puck J Peltenburg, Sanjeev N J Pultoo, Kathryn E Tobert, J Martijn Bos, Krystien V V Lieve, Michael Tanck, Sally-Ann B Clur, Nico A Blom, Michael J Ackerman, Arthur A M Wilde, Christian van der Werf
Europace. 2023 Feb; 25(2): 619–626. Published online 2022 Nov 12. doi: 10.1093/europace/euac177
PMCID:
PMC9934990
ArticlePDF–634K

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