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Items: 1 to 20 of 82

1.
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann
Ann Clin Transl Neurol. 2024 Mar; 11(3): 629–640. Published online 2024 Feb 4. doi: 10.1002/acn3.51983
PMCID:
PMC10963296
AbstractArticlePDF–6.8M
2.
Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2
Michelle Rodriguez Garcia, Jeffrey Schmeckpeper, Maicon Landim-Vieira, Isabella Leite Coscarella, Xuan Fang, Weikang Ma, Payton A. Spran, Shengyao Yuan, Lin Qi, Aida Rahimi Kahmini, M. Benjamin Shoemaker, James B. Atkinson, Peter M. Kekenes-Huskey, Thomas C. Irving, Prescott Bryant Chase, Björn C. Knollmann, Jose Renato Pinto
Int J Mol Sci. 2023 Oct; 24(19): 14572. Published online 2023 Sep 26. doi: 10.3390/ijms241914572
PMCID:
PMC10572656
AbstractArticlePDF–7.5M
3.
Mutation update for the ACTN2 gene
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese
Hum Mutat. 2022 Dec; 43(12): 1745–1756. Published online 2022 Sep 27. doi: 10.1002/humu.24470
PMCID:
PMC10087778
AbstractArticlePDF–1.2M
4.
ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes
Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Niels Pietsch, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Moritz Meyer-Jens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier
Cells. 2022 Sep; 11(17): 2745. Published online 2022 Sep 2. doi: 10.3390/cells11172745
PMCID:
PMC9454684
AbstractArticlePDF–2.7M
5.
Mono- and Bi-allelic Protein Truncating Variants in Alpha-actinin 2 cause Cardiomyopathy through Distinct Mechanisms
Malene E. Lindholm, David Jimenez-Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao, Archana Raja, Roshni Madhvani, Sarah Abramowitz, Cedric Espenel, Shirley Sutton, Colleen Caleshu, Gerald J. Berry, Kara S. Motonaga, Kyla Dunn, Julia Platt, Euan A. Ashley, Matthew T. Wheeler
Circ Genom Precis Med. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Circ Genom Precis Med. 2021 Dec; 14(6): e003419. Published online 2021 Nov 22. doi: 10.1161/CIRCGEN.121.003419
PMCID:
PMC8692448
AbstractArticlePDF–1.8M
6.
Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure
Marios Arvanitis, Emmanouil Tampakakis, Yanxiao Zhang, Wei Wang, Adam Auton, 23andMe Research Team, Diptavo Dutta, Stephanie Glavaris, Ali Keramati, Nilanjan Chatterjee, Neil C. Chi, Bing Ren, Wendy S. Post, Alexis Battle
Nat Commun. 2020; 11: 1122. Published online 2020 Feb 28. doi: 10.1038/s41467-020-14843-7
PMCID:
PMC7048760
AbstractArticlePDF–2.6M
7.
ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)
Xavière Lornage, Norma B. Romero, Claire A. Grosgogeat, Edoardo Malfatti, Sandra Donkervoort, Michael M. Marchetti, Sarah B. Neuhaus, A. Reghan Foley, Clémence Labasse, Raphaël Schneider, Robert Y. Carlier, Katherine R. Chao, Livija Medne, Jean-François Deleuze, David Orlikowski, Carsten G. Bönnemann, Vandana A. Gupta, Michel Fardeau, Johann Böhm, Jocelyn Laporte
Acta Neuropathol. Author manuscript; available in PMC 2020 Mar 1.
Published in final edited form as: Acta Neuropathol. 2019 Mar; 137(3): 501–519. Published online 2019 Jan 30. doi: 10.1007/s00401-019-01963-8
PMCID:
PMC6545377
AbstractArticlePDF–1.8M
8.
Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation
Natalie J. Haywood, Marcin Wolny, Brendan Rogers, Chi H. Trinh, Yu Shuping, Thomas A. Edwards, Michelle Peckham
Biochem J. 2016 Aug 15; 473(16): 2485–2493. Prepublished online 2016 Jun 9. Published online 2016 Aug 11. doi: 10.1042/BCJ20160421
PMCID:
PMC4980809
AbstractArticlePDF–1.1M
9.
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
Richard D Bagnall, Laura K Molloy, Jonathan M Kalman, Christopher Semsarian
BMC Med Genet. 2014; 15: 99. Published online 2014 Sep 16. doi: 10.1186/s12881-014-0099-0
PMCID:
PMC4355500
AbstractArticlePDF–1.8M
10.
Genetic Association of MPPED2 and ACTN2 with Dental Caries
B.O.C. Stanley, E. Feingold, M. Cooper, M.M. Vanyukov, B.S. Maher, R.L. Slayton, M.C. Willing, S.E. Reis, D.W. McNeil, R.J. Crout, R.J. Weyant, S.M. Levy, A.R. Vieira, M.L. Marazita, J.R. Shaffer
J Dent Res. 2014 Jul; 93(7): 626–632. doi: 10.1177/0022034514534688
PMCID:
PMC4107549
AbstractArticlePDF–631K
11.
Genome Sequences and Phylogenetic Analysis of K88- and F18-Positive Porcine Enterotoxigenic Escherichia coli
Sara M. Shepard, Jessica L. Danzeisen, Richard E. Isaacson, Torsten Seemann, Mark Achtman, Timothy J. Johnson
J Bacteriol. 2012 Jan; 194(2): 395–405. doi: 10.1128/JB.06225-11
PMCID:
PMC3256668
AbstractArticlePDF–1.6M
12.
α-Actinin/titin interaction: A dynamic and mechanically stable cluster of bonds in the muscle Z-disk
Marco Grison, Ulrich Merkel, Julius Kostan, Kristina Djinović-Carugo, Matthias Rief
Proc Natl Acad Sci U S A. 2017 Jan 31; 114(5): 1015–1020. Published online 2017 Jan 17. doi: 10.1073/pnas.1612681114
PMCID:
PMC5293040
AbstractArticlePDF–3.9M
13.
The Structure and Regulation of Human Muscle α-Actinin
Euripedes de Almeida Ribeiro, Jr., Nikos Pinotsis, Andrea Ghisleni, Anita Salmazo, Petr V. Konarev, Julius Kostan, Björn Sjöblom, Claudia Schreiner, Anton A. Polyansky, Eirini A. Gkougkoulia, Mark R. Holt, Finn L. Aachmann, Bojan Žagrović, Enrica Bordignon, Katharina F. Pirker, Dmitri I. Svergun, Mathias Gautel, Kristina Djinović-Carugo
Cell. 2014 Dec 4; 159(6): 1447–1460. doi: 10.1016/j.cell.2014.10.056
PMCID:
PMC4259493
AbstractArticle
14.
Interactions of Calmodulin and α-Actinin with the NR1 Subunit Modulate Ca2+-Dependent Inactivation of NMDA Receptors
Johannes J. Krupp, Bryce Vissel, Christopher G. Thomas, Stephen F. Heinemann, Gary L. Westbrook
J Neurosci. 1999 Feb 15; 19(4): 1165–1178. doi: 10.1523/JNEUROSCI.19-04-01165.1999
PMCID:
PMC6786025
AbstractArticlePDF–411K
15.
Huntingtin associates with the actin cytoskeleton and α-actinin isoforms to influence stimulus dependent morphology changes
Adelaide Tousley, Maria Iuliano, Elizabeth Weisman, Ellen Sapp, Heather Richardson, Petr Vodicka, Jonathan Alexander, Neil Aronin, Marian DiFiglia, Kimberly B. Kegel-Gleason
PLoS One. 2019; 14(2): e0212337. Published online 2019 Feb 15. doi: 10.1371/journal.pone.0212337
PMCID:
PMC6377189
AbstractArticlePDF–4.5M
16.
Distinct subcellular mechanisms for the enhancement of the surface membrane expression of SK2 channel by its interacting proteins, α‐actinin2 and filamin A
Zheng Zhang, Hannah A. Ledford, Seojin Park, Wenying Wang, Sassan Rafizadeh, Hyo Jeong Kim, Wilson Xu, Ling Lu, Victor C. Lau, Anne A. Knowlton, Xiao‐Dong Zhang, Ebenezer N. Yamoah, Nipavan Chiamvimonvat
J Physiol. 2017 Apr 1; 595(7): 2271–2284. Published online 2016 Dec 7. doi: 10.1113/JP272942
PMCID:
PMC5374114
AbstractArticlePDF–1.2M
17.
Atrogin-1/muscle atrophy F-box inhibits calcineurin-dependent cardiac hypertrophy by participating in an SCF ubiquitin ligase complex
Hui-Hua Li, Vishram Kedar, Chunlian Zhang, Holly McDonough, Ranjana Arya, Da-Zhi Wang, Cam Patterson
J Clin Invest. 2004 Oct 15; 114(8): 1058–1071. doi: 10.1172/JCI22220
PMCID:
PMC522252
AbstractArticlePDF–1.4M
18.
The interaction of titin and α-actinin is controlled by a phospholipid-regulated intramolecular pseudoligand mechanism
Paul Young, Mathias Gautel
EMBO J. 2000 Dec 1; 19(23): 6331–6340. doi: 10.1093/emboj/19.23.6331
PMCID:
PMC305858
AbstractArticlePDF–379K
19.
Utrophin Binds Laterally along Actin Filaments and Can Couple Costameric Actin with Sarcolemma When Overexpressed in Dystrophin-deficient Muscle
Inna N. Rybakova, Jitandrakumar R. Patel, Kay E. Davies, Peter D. Yurchenco, James M. Ervasti
Mol Biol Cell. 2002 May; 13(5): 1512–1521. doi: 10.1091/mbc.01-09-0446
PMCID:
PMC111123
AbstractArticlePDF–709K
20.
Muscle Lim Protein isoform negatively regulates striated muscle actin dynamics and differentiation
Elizabeth Vafiadaki, Demetrios A. Arvanitis, Vasiliki Papalouka, Gerasimos Terzis, Theodoros I. Roumeliotis, Konstantinos Spengos, Spiros D. Garbis, Panagiota Manta, Evangelia G. Kranias, Despina Sanoudou
FEBS J. Author manuscript; available in PMC 2015 Jul 1.
Published in final edited form as: FEBS J. 2014 Jul; 281(14): 3261–3279. Published online 2014 Jun 11. doi: 10.1111/febs.12859
PMCID:
PMC4416226
AbstractArticlePDF–1.3M

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