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Items: 1 to 20 of 120

1.
Cardiac myosin binding protein-C phosphorylation as a function of multiple protein kinase and phosphatase activities
Thomas Kampourakis, Saraswathi Ponnam, Kenneth S. Campbell, Austin Wellette-Hunsucker, Daniel Koch
Nat Commun. 2024; 15: 5111. Published online 2024 Jun 14. doi: 10.1038/s41467-024-49408-5
PMCID:
PMC11178824
AbstractArticlePDF–14M
2.
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry
Nikki J. Earle, Annika Winbo, Jackie Crawford, Miriam Wheeler, Rachael Stiles, Tom Donoghue, Martin K. Stiles, Ian Hayes, Luciana Marcondes, Andrew Martin, Jonathan R. Skinner
Circ Heart Fail. 2024 Mar; 17(3): e010970. Published online 2024 Mar 8. doi: 10.1161/CIRCHEARTFAILURE.123.010970
PMCID:
PMC10942243
AbstractArticlePDF–669K
3.
Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy
Amy Pearce, Saraswathi Ponnam, Mark R. Holt, Thomas Randall, Rylan Beckingham, Ay Lin Kho, Thomas Kampourakis, Elisabeth Ehler
J Biol Chem. 2024 Jan; 300(1): 105511. Published online 2023 Nov 30. doi: 10.1016/j.jbc.2023.105511
PMCID:
PMC10772716
AbstractArticlePDF–2.8M
4.
An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
Bogdan-Sorin Tudurachi, Alexandra Zăvoi, Andreea Leonte, Laura Țăpoi, Carina Ureche, Silviu Gabriel Bîrgoan, Traian Chiuariu, Larisa Anghel, Rodica Radu, Radu Andy Sascău, Cristian Stătescu
Int J Mol Sci. 2023 Jul; 24(13): 10510. Published online 2023 Jun 22. doi: 10.3390/ijms241310510
PMCID:
PMC10341819
AbstractArticlePDF–985K
5.
Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain
Natalia Fernández Suárez, María Teresa Viadero Ubierna, Jesús Garde Basas, María Esther Onecha de la Fuente, María Teresa Amigo Lanza, Gonzalo Martin Gorria, Adrián Rivas Pérez, Luis Ruiz Guerrero, Domingo González-Lamuño
Genes (Basel) 2023 Apr; 14(4): 840. Published online 2023 Mar 30. doi: 10.3390/genes14040840
PMCID:
PMC10137663
AbstractArticlePDF–2.5M
6.
Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
David Y. Barefield
J Gen Physiol. 2023 Apr 3; 155(4): e202313351. Published online 2023 Mar 22. doi: 10.1085/jgp.202313351
PMCID:
PMC10072154
AbstractArticlePDF–863K
7.
cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities
Willem J. De Lange, Emily T. Farrell, Jonathan J. Hernandez, Alana Stempien, Caroline R. Kreitzer, Derek R. Jacobs, Dominique L. Petty, Richard L. Moss, Wendy C. Crone, J. Carter Ralphe
J Gen Physiol. 2023 Apr 3; 155(4): e202213204. Published online 2023 Mar 9. doi: 10.1085/jgp.202213204
PMCID:
PMC10038829
AbstractArticlePDF–5.4M
8.
Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM
Josè Manuel Pioner, Giulia Vitale, Sonette Steczina, Marianna Langione, Francesca Margara, Lorenzo Santini, Francesco Giardini, Erica Lazzeri, Nicoletta Piroddi, Beatrice Scellini, Chiara Palandri, Maike Schuldt, Valentina Spinelli, Francesca Girolami, Francesco Mazzarotto, Jolanda van der Velden, Elisabetta Cerbai, Chiara Tesi, Iacopo Olivotto, Alfonso Bueno-Orovio, Leonardo Sacconi, Raffaele Coppini, Cecilia Ferrantini, Michael Regnier, Corrado Poggesi
Circ Res. 2023 Mar 3; 132(5): 628–644. Published online 2023 Feb 6. doi: 10.1161/CIRCRESAHA.122.321956
PMCID:
PMC9977265
AbstractArticlePDF–5.4M
9.
MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations
Li-rong Lin, Xue-qun Hu, Li-hong Lu, Jia-zhen Dai, Ning-ning Lin, Re-hua Wang, Zhang-xin Xie, Xue-mei Chen
BMC Cardiovasc Disord. 2022; 22: 278. Published online 2022 Jun 18. doi: 10.1186/s12872-022-02714-6
PMCID:
PMC9206743
AbstractArticlePDF–1.4M
10.
Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat
Sci Rep. 2022; 12: 7284. Published online 2022 May 4. doi: 10.1038/s41598-022-11159-y
PMCID:
PMC9068804
AbstractArticlePDF–2.8M
11.
Inhibition of HSC70 alleviates hypertrophic cardiomyopathy pathology in human induced pluripotent stem cell‐derived cardiomyocytes with a MYBPC3 mutation
Hangyuan Qiu, Yaxun Sun, Ziwei Pan, Jingjun Zhou, Hongkun Wang, Xiaochen Wang, Dongsheng Cai, Guosheng Fu, Tingyu Gong, Chenyang Jiang, Ping Liang
Clin Transl Med. 2021 Dec; 11(12): e647. Published online 2021 Dec 29. doi: 10.1002/ctm2.647
PMCID:
PMC8715830
ArticlePDF–3.1M
12.
Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3Δ25bp/D389V
Frederic V. Schwäbe, Emanuel K. Peter, Manuel H. Taft, Dietmar J. Manstein
Int J Mol Sci. 2021 Nov; 22(21): 11949. Published online 2021 Nov 4. doi: 10.3390/ijms222111949
PMCID:
PMC8584774
AbstractArticlePDF–3.7M
13.
Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy—The Graz Hypertrophic Cardiomyopathy Registry
Viktoria Höller, Heidelis Seebacher, David Zach, Nora Schwegel, Klemens Ablasser, Ewald Kolesnik, Johannes Gollmer, Gert Waltl, Peter P. Rainer, Sarah Verheyen, Andreas Zirlik, Nicolas Verheyen
Genes (Basel) 2021 Oct; 12(10): 1469. Published online 2021 Sep 23. doi: 10.3390/genes12101469
PMCID:
PMC8535960
AbstractArticlePDF–1.3M
14.
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
Irene Méndez, Ana Isabel Fernández, Maria Ángeles Espinosa, Sofía Cuenca, Rebeca Lorca, José Fernando Rodríguez, Maria Tamargo, Marta García-Montero, Cristina Gómez, Silvia Vilches, Nélida Vázquez, Reyes Álvarez, Constancio Medrano, Raquel Yotti, Francisco Fernández-Avilés, Javier Bermejo
Open Heart. 2021; 8(2): e001789. Published online 2021 Sep 29. doi: 10.1136/openhrt-2021-001789
PMCID:
PMC8483030
AbstractArticlePDF–2.3M
15.
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers
Rebecca K. Hughes, Claudia Camaioni, João B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon
J Am Heart Assoc. 2021 Aug 3; 10(15): e020227. Published online 2021 Jul 26. doi: 10.1161/JAHA.120.020227
PMCID:
PMC8475659
AbstractArticlePDF–1.7M
16.
Interaction of the C2 Ig-like Domain of Cardiac Myosin Binding Protein-C with F-actin
Cristina M. Risi, Malay Patra, Betty Belknap, Samantha P. Harris, Howard D. White, Vitold E. Galkin
J Mol Biol. Author manuscript; available in PMC 2022 Sep 17.
Published in final edited form as: J Mol Biol. 2021 Sep 17; 433(19): 167178. Published online 2021 Jul 27. doi: 10.1016/j.jmb.2021.167178
PMCID:
PMC8453104
AbstractArticlePDF–3.0M
17.
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy
Carmen Suay-Corredera, Maria Rosaria Pricolo, Elías Herrero-Galán, Diana Velázquez-Carreras, David Sánchez-Ortiz, Diego García-Giustiniani, Javier Delgado, Juan José Galano-Frutos, Helena García-Cebollada, Silvia Vilches, Fernando Domínguez, María Sabater Molina, Roberto Barriales-Villa, Giulia Frisso, Javier Sancho, Luis Serrano, Pablo García-Pavía, Lorenzo Monserrat, Jorge Alegre-Cebollada
J Biol Chem. 2021 Jul; 297(1): 100854. Published online 2021 Jun 5. doi: 10.1016/j.jbc.2021.100854
PMCID:
PMC8260873
AbstractArticlePDF–1.8M
18.
Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner
Rohit R. Singh, James W. McNamara, Sakthivel Sadayappan
J Biol Chem. 2021 Jul; 297(1): 100836. Published online 2021 May 27. doi: 10.1016/j.jbc.2021.100836
PMCID:
PMC8239744
AbstractArticlePDF–3.0M
19.
Cardiac myosin-binding protein C interaction with actin is inhibited by compounds identified in a high-throughput fluorescence lifetime screen
Thomas A. Bunch, Piyali Guhathakurta, Victoria C. Lepak, Andrew R. Thompson, Rhye-Samuel Kanassatega, Anna Wilson, David D. Thomas, Brett A. Colson
J Biol Chem. 2021 Jul; 297(1): 100840. Published online 2021 May 28. doi: 10.1016/j.jbc.2021.100840
PMCID:
PMC8233204
AbstractArticlePDF–2.1M
20.
Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations
J. Pei, M. Schuldt, E. Nagyova, Z. Gu, S. el Bouhaddani, L. Yiangou, M. Jansen, J. J. A. Calis, L. M. Dorsch, C. Snijders Blok, N. A. M. van den Dungen, N. Lansu, B. J. Boukens, I. R. Efimov, M. Michels, M. C. Verhaar, R. de Weger, A. Vink, F. G. van Steenbeek, A. F. Baas, R. P. Davis, H. W. Uh, D. W. D. Kuster, C. Cheng, M. Mokry, J. van der Velden, F. W. Asselbergs, M. Harakalova
Clin Epigenetics. 2021; 13: 61. Published online 2021 Mar 23. doi: 10.1186/s13148-021-01043-3
PMCID:
PMC7989210
AbstractArticlePDF–2.6M

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