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Items: 1 to 20 of 25

1.
Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure
Andrew R. M. Michael, Bruno C. Amaral, Kallie L. Ball, Kristen H. Eiriksson, David C. Schriemer
Nat Commun. 2024; 15: 8537. Published online 2024 Oct 2. doi: 10.1038/s41467-024-52844-y
PMCID:
PMC11447256
AbstractArticlePDF–2.8M
2.
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability
Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir
Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w
PMCID:
PMC10713615
AbstractArticlePDF–1.8M
3.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
4.
TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN
Kaini Zhang, Chen Yang, Xin Zhou, Jin Liang, Jianjin Guo, Min Li, Yi Zhang, Shulin Shao, Peng Sun, Kai Li, Jingjing Huang, Fang Chen, Xiubin Liang, Dongming Su
Cell Mol Life Sci. 2023 Jun; 80(6): 168. Published online 2023 May 30. doi: 10.1007/s00018-023-04820-w
PMCID:
PMC10229743
AbstractArticlePDF–2.9M
5.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
Beryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, Jill A. Rosenfeld, Jennifer A. Bassetti, Oana Moldovan, Emily O’Heir, Lindsay C. Burrage, Jake Allen, Lisa T. Emrick, Emma Eastman, Camille Kumps, Safdar Abbas, Geraldine Van Winckel, Undiagnosed Diseases Network, Nadia Chabane, Elaine H. Zackai, Sebastien Lebon, Beth Keena, Elizabeth J. Bhoj, Muhammad Umair, Dong Li, Kirsten A. Donald, Andrea Superti-Furga
Mol Autism. 2021; 12: 69. Published online 2021 Oct 26. doi: 10.1186/s13229-021-00473-3
PMCID:
PMC8547031
AbstractArticlePDF–1.1M
6.
Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective
T. Schneider, F. Neumaier, J. Hescheler, S. Alpdogan
Pflugers Arch. 2020; 472(7): 811–816. Published online 2020 Jun 11. doi: 10.1007/s00424-020-02395-0
PMCID:
PMC7351833
AbstractArticlePDF–837K
7.
F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Cav2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung
Baoyi Zhu, Zhengfu Feng, Yan Guo, Tian Zhang, Ai Mai, Zhanfang Kang, Ting Weijen, Dai Wang, Dazhong Yin, Dongxing Zhu, Jun Gao
Cell Commun Signal. 2020; 18: 19. Published online 2020 Feb 4. doi: 10.1186/s12964-020-0515-3
PMCID:
PMC7001235
AbstractArticlePDF–2.2M
8.
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Katherine L. Helbig, Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, Maria A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina R. Fagerberg, Kristina P. Soerensen, Maria Kibaek, Erik-Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, H. Jurgen Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-Lopez, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilguvar, Antigone Papavasileiou, Qinghe Xin, Changlian Zhu, Katja Boysen, Filippo Vairo, Brendan C. Lanpher, Eric W. Klee, Jan-Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa M. Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Mark A. Corbett, Alastair H. MacLennan, Jozef Gecz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda A. Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt-Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle M. El Achkar, Lacey A. Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis-Juan, Keren J. Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Deciphering Developmental Disorders Study, Ulrike B.S. Hedrich, Ingrid E. Scheffer, Ingo Helbig, Gerald W. Zamponi, Holger Lerche, Heather C. Mefford
Am J Hum Genet. 2018 Nov 1; 103(5): 666–678. Published online 2018 Oct 18. doi: 10.1016/j.ajhg.2018.09.006
Correction in:
Am J Hum Genet. 2019 Mar 7; 104(3): 562.
PMCID:
PMC6216110
AbstractArticlePDF–1.2M
9.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
10.
Evolutionary insights into T-type Ca2+ channel structure, function, and ion selectivity from the Trichoplax adhaerens homologue
Carolyn L. Smith, Salsabil Abdallah, Yuen Yan Wong, Phuong Le, Alicia N. Harracksingh, Liana Artinian, Arianna N. Tamvacakis, Vincent Rehder, Thomas S. Reese, Adriano Senatore
J Gen Physiol. 2017 Apr 3; 149(4): 483–510. doi: 10.1085/jgp.201611683
PMCID:
PMC5379919
AbstractArticlePDF–3.4M
11.
Association between Genetic Polymorphisms in Cav2.3 (R-type) Ca2+ Channels and Fentanyl Sensitivity in Patients Undergoing Painful Cosmetic Surgery
Soichiro Ide, Daisuke Nishizawa, Ken-ichi Fukuda, Shinya Kasai, Junko Hasegawa, Masakazu Hayashida, Masabumi Minami, Kazutaka Ikeda
PLoS One. 2013; 8(8): e70694. Published online 2013 Aug 5. doi: 10.1371/journal.pone.0070694
Expression of Concern in:
PLoS One. 2023; 18(1): e0278809.
PMCID:
PMC3734060
AbstractArticlePDF–462K
12.
Genetics of coronary artery calcification among African Americans, a meta-analysis
Mary K Wojczynski, Mingyao Li, Lawrence F Bielak, Kathleen F Kerr, Alex P Reiner, Nathan D Wong, Lisa R Yanek, Liming Qu, Charles C White, Leslie A Lange, Jane F Ferguson, Jing He, Taylor Young, Thomas H Mosley, Jennifer A Smith, Brian G Kral, Xiuqing Guo, Quenna Wong, Santhi K Ganesh, Susan R Heckbert, Michael E Griswold, Daniel H O’Leary, Matthew Budoff, J Jeffrey Carr, Herman A Taylor,, Jr., David A Bluemke, Serkalem Demissie, Shih-Jen Hwang, Dina N Paltoo, Joseph F Polak, Bruce M Psaty, Diane M Becker, Michael A Province, Wendy S Post, Christopher J O’Donnell, James G Wilson, Tamara B Harris, Maryam Kavousi, L Adrienne Cupples, Jerome I Rotter, Myriam Fornage, Lewis C Becker, Patricia A Peyser, Ingrid B Borecki, Muredach P Reilly
BMC Med Genet. 2013; 14: 75. Published online 2013 Jul 19. doi: 10.1186/1471-2350-14-75
PMCID:
PMC3733595
AbstractArticlePDF–884K
13.
Loci Associated with N-Glycosylation of Human Immunoglobulin G Show Pleiotropy with Autoimmune Diseases and Haematological Cancers
Gordan Lauc, Jennifer E. Huffman, Maja Pučić, Lina Zgaga, Barbara Adamczyk, Ana Mužinić, Mislav Novokmet, Ozren Polašek, Olga Gornik, Jasminka Krištić, Toma Keser, Veronique Vitart, Blanca Scheijen, Hae-Won Uh, Mariam Molokhia, Alan Leslie Patrick, Paul McKeigue, Ivana Kolčić, Ivan Krešimir Lukić, Olivia Swann, Frank N. van Leeuwen, L. Renee Ruhaak, Jeanine J. Houwing-Duistermaat, P. Eline Slagboom, Marian Beekman, Anton J. M. de Craen, André M. Deelder, Qiang Zeng, Wei Wang, Nicholas D. Hastie, Ulf Gyllensten, James F. Wilson, Manfred Wuhrer, Alan F. Wright, Pauline M. Rudd, Caroline Hayward, Yurii Aulchenko, Harry Campbell, Igor Rudan
PLoS Genet. 2013 Jan; 9(1): e1003225. Published online 2013 Jan 31. doi: 10.1371/journal.pgen.1003225
PMCID:
PMC3561084
AbstractArticlePDF–1.0M
14.
A Quartet of Leucine Residues in the Guanylate Kinase Domain of CaVβ Determines the Plasma Membrane Density of the CaV2.3 Channel
Behzad Shakeri, Benoîte Bourdin, Pierre-Olivier Demers-Giroux, Rémy Sauvé, Lucie Parent
J Biol Chem. 2012 Sep 21; 287(39): 32835–32847. Published online 2012 Jul 30. doi: 10.1074/jbc.M112.387233
PMCID:
PMC3463297
AbstractArticlePDF–6.0M
15.
CACNA1E Variants Affect Beta Cell Function in Patients with Newly Diagnosed Type 2 Diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 3
Maddalena Trombetta, Sara Bonetti, MariaLinda Boselli, Fabiola Turrini, Giovanni Malerba, Elisabetta Trabetti, PierFranco Pignatti, Enzo Bonora, Riccardo C. Bonadonna
PLoS One. 2012; 7(3): e32755. Published online 2012 Mar 9. doi: 10.1371/journal.pone.0032755
PMCID:
PMC3302892
AbstractArticlePDF–301K
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
18.
A high-density association screen of 155 ion transport genes for involvement with common migraine
Dale R. Nyholt, K. Steven LaForge, Mikko Kallela, Kirsi Alakurtti, Verneri Anttila, Markus Färkkilä, Eija Hämaläinen, Jaakko Kaprio, Mari A. Kaunisto, Andrew C. Heath, Grant W. Montgomery, Hartmut Göbel, Unda Todt, Michel D. Ferrari, Lenore J. Launer, Rune R. Frants, Gisela M. Terwindt, Boukje de Vries, W.M. Monique Verschuren, Jan Brand, Tobias Freilinger, Volker Pfaffenrath, Andreas Straube, Dennis G. Ballinger, Yiping Zhan, Mark J. Daly, David R. Cox, Martin Dichgans, Arn M.J.M. van den Maagdenberg, Christian Kubisch, Nicholas G. Martin, Maija Wessman, Leena Peltonen, Aarno Palotie
Hum Mol Genet. 2008 Nov 1; 17(21): 3318–3331. Published online 2008 Aug 2. doi: 10.1093/hmg/ddn227
PMCID:
PMC2566523
AbstractArticlePDF–315K
19.
Association analysis of chromosome 1 migraine candidate genes
Francesca Fernandez, Robert P Curtain, Natalie J Colson, Micky Ovcaric, John MacMillan, Lyn R Griffiths
BMC Med Genet. 2007; 8: 57. Published online 2007 Aug 29. doi: 10.1186/1471-2350-8-57
PMCID:
PMC2034370
AbstractArticlePDF–277K
20.
A specific tryptophan in the I-II linker is a key determinant of beta-subunit binding and modulation in Ca(V)2.3 calcium channels.
L Berrou, H Klein, G Bernatchez, L Parent
Biophys J. 2002 Sep; 83(3): 1429–1442. doi: 10.1016/S0006-3495(02)73914-3
PMCID:
PMC1302242
SummaryPDF–403K

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