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Select item 91567151.

One gene, two modes of inheritance, four diseases: A systematic review of the cardiac manifestation of pathogenic variants in JPH2-encoded junctophilin-2

Lauren E. Parker, Ryan J. Kramer, Samantha Kaplan, Andrew P. Landstrom

Trends Cardiovasc Med. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Trends Cardiovasc Med. 2023 Jan; 33(1): 1–10. Published online 2021 Dec 1. doi: 10.1016/j.tcm.2021.11.006

PMCID:: PMC9156715

Abstract Article PDF–1.3M

Select item 89160022.

Structures of the junctophilin/voltage-gated calcium channel interface reveal hot spot for cardiomyopathy mutations

Zheng Fang Yang, Pankaj Panwar, Ciaran R. McFarlane, Wietske E. Tuinte, Marta Campiglio, Filip Van Petegem

Proc Natl Acad Sci U S A. 2022 Mar 8; 119(10): e2120416119. Published online 2022 Mar 1. doi: 10.1073/pnas.2120416119

PMCID:: PMC8916002

Abstract Article PDF–2.6M

Select item 77908623.

Interaction of the Joining Region in Junctophilin-2 with the L-type Ca²⁺ Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca²⁺ Dynamics

Polina Gross, Jaslyn Johnson, Carlos M. Romero, Deborah M. Eaton, Claire Poulet, Jose Sanchez-Alonso, Carla Lucarelli, Jean Ross, Andrew A. Gibb, Joanne F. Garbincius, Jonathan Lambert, Erdem Varol, Yijun Yang, Markus Wallner, Eric A. Feldsott, Hajime Kubo, Remus M. Berretta, Daohai Yu, Victor Rizzo, John Elrod, Abdelkarim Sabri, Julia Gorelik, Xiongwen Chen, Steven R. Houser

Circ Res. Author manuscript; available in PMC 2022 Jan 8.

Published in final edited form as: Circ Res. 2021 Jan 8; 128(1): 92–114. Published online 2020 Oct 23. doi: 10.1161/CIRCRESAHA.119.315715

PMCID:: PMC7790862

Abstract Article PDF–4.4M

Select item 67372224.

S-Palmitoylation of junctophilin-2 is critical for its role in tethering the sarcoplasmic reticulum to the plasma membrane

Min Jiang, Junping Hu, Frances K. H. White, Judy Williamson, Andrey S. Klymchenko, Akshay Murthy, Samuel W. Workman, Gea-Ny Tseng

J Biol Chem. 2019 Sep 6; 294(36): 13487–13501. Published online 2019 Jul 23. doi: 10.1074/jbc.RA118.006772

PMCID:: PMC6737222

Abstract Article PDF–5.0M

Select item 65885595.

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy

Edward G. Jones, Neda Mazaheri, Reza Maroofian, Mina Zamani, Tahereh Seifi, Alireza Sedaghat, Gholamreza Shariati, Yalda Jamshidi, Hugh D. Allen, Xander H. T. Wehrens, Hamid Galehdari, Andrew P. Landstrom

Sci Rep. 2019; 9: 9038. Published online 2019 Jun 21. doi: 10.1038/s41598-019-44987-6

PMCID:: PMC6588559

Abstract Article PDF–1.9M

Select item 61474246.

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

Sari U. M. Vanninen, Krista Leivo, Eija H. Seppälä, Katriina Aalto-Setälä, Olli Pitkänen, Piia Suursalmi, Antti-Pekka Annala, Ismo Anttila, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö, Juha W. Koskenvuo

PLoS One. 2018; 13(9): e0203422. Published online 2018 Sep 20. doi: 10.1371/journal.pone.0203422

PMCID:: PMC6147424

Abstract Article PDF–1.9M

Select item 101134267.

Nuclear Localization of a Novel Calpain-2 Mediated Junctophilin-2 C-terminal Cleavage Peptide Promotes Cardiomyocyte Remodeling

Satadru K. Lahiri, Ann P. Quick, Benoit Samson-Couterie, Mohit Hulsurkar, Ies Elzenaar, Gunnar Weninger, Stephan E. Lehnart, Ralph J. van Oort, Xander H.T. Wehrens

Basic Res Cardiol. Author manuscript; available in PMC 2023 Apr 19.

Published in final edited form as: Basic Res Cardiol. 2020 Jun 26; 115(4): 49. Published online 2020 Jun 26. doi: 10.1007/s00395-020-0807-1

PMCID:: PMC10113426

Abstract Article PDF–1.8M

Select item 43185648.

Mutations in JPH2-Encoded Junctophilin-2 Associated with Hypertrophic Cardiomyopathy in Humans

Andrew P. Landstrom, Noah Weisleder, Karin B. Batalden, J. Martijn Bos, David J. Tester, Steve R. Ommen, Xander H.T Wehrens, William C. Claycomb, Jae-Kyun Ko, Moonsun Hwang, Zui Pan, Jianjie Ma, Michael J. Ackerman

J Mol Cell Cardiol. Author manuscript; available in PMC 2015 Feb 5.

Published in final edited form as: J Mol Cell Cardiol. 2007 Jun; 42(6): 1026–1035. Published online 2007 Apr 18. doi: 10.1016/j.yjmcc.2007.04.006

PMCID:: PMC4318564

Article PDF–899K

Select item 40063059.

Microtubule-Mediated Defects in Junctophilin-2 Trafficking Contribute to Myocyte T-Tubule Remodeling and Ca²⁺ Handling Dysfunction in Heart Failure

Caimei Zhang, Biyi Chen, Ang Guo, Yanqi Zhu, Jordan D. Miller, Shan Gao, Can Yuan, William Kutschke, Kathy Zimmerman, Robert M. Weiss, Xander H.T. Wehrens, Jiang Hong, Frances L. Johnson, Luis F. Santana, Mark E. Anderson, Long-Sheng Song

Circulation. Author manuscript; available in PMC 2015 Apr 29.

Published in final edited form as: Circulation. 2014 Apr 29; 129(17): 1742–1750. Published online 2014 Feb 11. doi: 10.1161/CIRCULATIONAHA.113.008452

PMCID:: PMC4006305

Abstract Article PDF–3.3M

Select item 389832910.

Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P₃ and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response

Hayley J. Bennett, John Bernard Davenport, Richard F. Collins, Andrew W. Trafford, Christian Pinali, Ashraf Kitmitto

Biochem J. 2013 Dec 1; 456(Pt 2): 205–217. Prepublished online 2013 Sep 4. Published online 2013 Nov 8. doi: 10.1042/BJ20130591

PMCID:: PMC3898329

Abstract Article PDF–1.2M

Select item 305938011.

Junctophilin-2 Expression Silencing Causes Cardiocyte Hypertrophy and Abnormal Intracellular Calcium-Handling

Andrew P. Landstrom, Cherisse A. Kellen, Sayali S. Dixit, Ralph J. van Oort, Alejandro Garbino, Noah Weisleder, Jianjie Ma, Xander H.T. Wehrens, Michael J. Ackerman

Circ Heart Fail. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Circ Heart Fail. 2011 Mar 1; 4(2): 214–223. Published online 2011 Jan 7. doi: 10.1161/CIRCHEARTFAILURE.110.958694

PMCID:: PMC3059380

Abstract Article PDF–1.2M

Select item 305640212.

Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors Following Acute Junctophilin Knockdown in Mice

Ralph J. van Oort, Alejandro Garbino, Wei Wang, Sayali S. Dixit, Andrew P. Landstrom, Namit Gaur, Angela C. De Almeida, Darlene G. Skapura, Yoram Rudy, Alan R. Burns, Michael J. Ackerman, Xander H.T. Wehrens

Circulation. Author manuscript; available in PMC 2012 Mar 8.

Published in final edited form as: Circulation. 2011 Mar 8; 123(9): 979–988. Published online 2011 Feb 21. doi: 10.1161/CIRCULATIONAHA.110.006437

PMCID:: PMC3056402

Abstract Article PDF–2.0M

Select item 948863313.

Junctophilins 1, 2, and 3 all support voltage-induced Ca²⁺ release despite considerable divergence

Stefano Perni, Kurt Beam

J Gen Physiol. 2022 Sep 5; 154(9): e202113024. Published online 2022 Jan 28. doi: 10.1085/jgp.202113024

PMCID:: PMC9488633

Abstract Article PDF–2.8M

Select item 662909714.

Junctophilin-2 expression rescues atrial dysfunction through polyadic junctional membrane complex biogenesis

Sören Brandenburg, Jan Pawlowitz, Benjamin Eikenbusch, Jonas Peper, Tobias Kohl, Gyuzel Y. Mitronova, Samuel Sossalla, Gerd Hasenfuss, Xander H.T. Wehrens, Peter Kohl, Eva A. Rog-Zielinska, Stephan E. Lehnart

JCI Insight. 2019 Jun 20; 4(12): e127116. Published online 2019 Jun 20. doi: 10.1172/jci.insight.127116

PMCID:: PMC6629097

Abstract Article PDF–17M

Select item 608429515.

Functional interaction of Junctophilin 2 with small‐ conductance Ca²⁺‐activated potassium channel subtype 2(SK2) in mouse cardiac myocytes

H. K. Fan, T. X. Luo, W. D. Zhao, Y. H. Mu, Y. Yang, W. J. Guo, H. Y. Tu, Q. Zhang

Acta Physiol (Oxf) 2018 Mar; 222(3): e12986. Published online 2017 Dec 7. doi: 10.1111/apha.12986

PMCID:: PMC6084295

Abstract Article PDF–2.2M

Select item 450504216.

Molecular Determinants of Calpain-dependent Cleavage of Junctophilin-2 Protein in Cardiomyocytes

Ang Guo, Duane Hall, Caimei Zhang, Tianqing Peng, Jordan D. Miller, William Kutschke, Chad E. Grueter, Frances L. Johnson, Richard Z. Lin, Long-Sheng Song

J Biol Chem. 2015 Jul 17; 290(29): 17946–17955. Published online 2015 Jun 10. doi: 10.1074/jbc.M115.652396

PMCID:: PMC4505042

Abstract Article PDF–2.3M

Select item 334028917.

Hypertrophy in Skeletal Myotubes Induced by Junctophilin-2 Mutant, Y141H, Involves an Increase in Store-operated Ca²⁺ Entry via Orai1

Jin Seok Woo, Chung-Hyun Cho, Keon Jin Lee, Do Han Kim, Jianjie Ma, Eun Hui Lee

J Biol Chem. 2012 Apr 27; 287(18): 14336–14348. Published online 2012 Mar 2. doi: 10.1074/jbc.M111.304808

PMCID:: PMC3340289

Abstract Article PDF–3.2M

Select item 324354318.

Junctophilin 1 and 2 Proteins Interact with the L-type Ca²⁺ Channel Dihydropyridine Receptors (DHPRs) in Skeletal Muscle

Lucia Golini, Christophe Chouabe, Christine Berthier, Vincenza Cusimano, Mara Fornaro, Robert Bonvallet, Luca Formoso, Emiliana Giacomello, Vincent Jacquemond, Vincenzo Sorrentino

J Biol Chem. 2011 Dec 23; 286(51): 43717–43725. Published online 2011 Oct 21. doi: 10.1074/jbc.M111.292755

PMCID:: PMC3243543

Abstract Article PDF–1.4M

Select item 357753919.

Ca²⁺-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle

R M Murphy, T L Dutka, D Horvath, J R Bell, L M Delbridge, G D Lamb

J Physiol. 2013 Feb 1; 591(Pt 3): 719–729. Published online 2012 Nov 12. doi: 10.1113/jphysiol.2012.243279

PMCID:: PMC3577539

Abstract Article PDF–1.0M

Select item 415550820.

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles

Jacqueline I Goldstein, L Fredrik Jarskog, Chris Hilliard, Ana Alfirevic, Laramie Duncan, Denis Fourches, Hailiang Huang, Monkol Lek, Benjamin M Neale, Stephan Ripke, Kevin Shianna, Jin P Szatkiewicz, Alexander Tropsha, Edwin JCG van den Oord, Ingolf Cascorbi, Michael Dettling, Ephraim Gazit, Donald C Goff, Arthur L Holden, Deanna L Kelly, Anil K Malhotra, Jimmi Nielsen, Munir Pirmohamed, Dan Rujescu, Thomas Werge, Deborah L Levy, Richard C Josiassen, James L Kennedy, Jeffrey A Lieberman, Mark J Daly, Patrick F Sullivan

Nat Commun. Author manuscript; available in PMC 2015 Mar 4.

Published in final edited form as: Nat Commun. 2014; 5: 4757. Published online 2014 Sep 4. doi: 10.1038/ncomms5757

PMCID:: PMC4155508

Abstract Article PDF–1.8M

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