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Items: 1 to 20 of 40

1.
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel
Juan Zhao, Dimitri Petitjean, Georges A. Haddad, Zarah Batulan, Rikard Blunck
Int J Mol Sci. 2020 Oct; 21(20): 7602. Published online 2020 Oct 14. doi: 10.3390/ijms21207602
PMCID:
PMC7589002
AbstractArticlePDF–1.8M
2.
The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K+ channel Kv1.1 through protein kinase C delta
Yuemin Tian, Patricia Korn, Priyanka Tripathi, Daniel Komnig, Dominik Wiemuth, Azadeh Nikouee, Arno Classen, Carsten Bolm, Björn H. Falkenburger, Bernhard Lüscher, Stefan Gründer
BMC Biol. 2020; 18: 143. Published online 2020 Oct 15. doi: 10.1186/s12915-020-00878-1
PMCID:
PMC7558731
AbstractArticlePDF–2.5M
3.
Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders
Haiming Yuan, Huihua Yuan, Qingming Wang, Wanhua Ye, Ruixia Yao, Wanfang Xu, Yanhui Liu
Mol Genet Genomic Med. 2020 Oct; 8(10): e1434. Published online 2020 Jul 23. doi: 10.1002/mgg3.1434
PMCID:
PMC7549609
AbstractArticlePDF–863K
4.
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine
Rían W. Manville, Geoffrey W. Abbott
J Pharmacol Exp Ther. 2020 Jun; 373(3): 391–401. Published online 2020 Jun. doi: 10.1124/jpet.119.264507
PMCID:
PMC7228494
AbstractArticlePDF–2.2M
5.
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity
Kelsey Paulhus, Lauren Ammerman, Edward Glasscock
Int J Mol Sci. 2020 Apr; 21(8): 2802. Published online 2020 Apr 17. doi: 10.3390/ijms21082802
PMCID:
PMC7215408
AbstractArticlePDF–1.3M
6.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
7.
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Edgard Verdura, Carme Fons, Agatha Schlüter, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Antonio Castellano, Aurora Pujol
J Med Genet. 2020 Feb; 57(2): 132–137. Published online 2019 Oct 5. doi: 10.1136/jmedgenet-2019-106373
PMCID:
PMC7029237
AbstractArticlePDF–3.6M
8.
Silencing of KCNA1 suppresses the cervical cancer development via mitochondria damage
Li Liu, Yumei Chen, Qingyuan Zhang, Changzhong Li
Channels (Austin) 2019; 13(1): 321–330. Published online 2019 Jul 27. doi: 10.1080/19336950.2019.1648627
PMCID:
PMC6682364
AbstractArticlePDF–3.0M
9.
Kv1.1 channel subunits in the control of neurocardiac function
Edward Glasscock
Channels (Austin) 2019; 13(1): 299–307. Published online 2019 Jun 28. doi: 10.1080/19336950.2019.1635864
PMCID:
PMC6602576
AbstractArticlePDF–1.3M
10.
Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer‐related pathways in breast cancer
Yan Liu, Jian Li, Zhifang Ma, Jun Zhang, Yuzhi Wang, Zhenghong Yu, Xue Lin, Zhi Xu, Qian Su, Li An, Yehui Zhou, Xinxing Ma, Yiwen Yang, Feifei Wang, Qingfei Chen, Yunchao Zhang, Jilinlin Wang, Huilin Zheng, Aihua Shi, Shuang Yu, Jingzhong Zhang, Weiyong Zhao, Liming Chen
Cancer Med. 2019 Feb; 8(2): 729–741. Published online 2019 Jan 16. doi: 10.1002/cam4.1938
PMCID:
PMC6504119
AbstractArticlePDF–1.3M
11.
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia
Jenny van der Wijst, Martin Konrad, Sjoerd A.J. Verkaart, Marcin Tkaczyk, Femke Latta, Janine Altmüller, Holger Thiele, Bodo Beck, Karl Peter Schlingmann, Jeroen H.F. de Baaij
Nephron Clin Pract. 2018 Jul; 139(4): 359–366. Published online 2018 May 23. doi: 10.1159/000488954
PMCID:
PMC6492638
AbstractArticle
12.
Genetic Variants Associated with Episodic Ataxia in Korea
Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin, Dae-Seong Kim, Kyung-Pil Park, Hyang-Sook Kim, Jae-Hwan Choi
Sci Rep. 2017; 7: 13855. Published online 2017 Oct 23. doi: 10.1038/s41598-017-14254-7
PMCID:
PMC5653837
AbstractArticlePDF–2.2M
13.
Pharmacogenetic and case–control study on potassium channel related gene variants and genetic generalized epilepsy
Jian Qu, Shao-Hua Lu, Zhi-Li Lu, Ping Xu, Da-Xiong Xiang, Qiang Qu
Medicine (Baltimore) 2017 Jun; 96(26): e7321. Published online 2017 Jun 30. doi: 10.1097/MD.0000000000007321
PMCID:
PMC5500063
AbstractArticlePDF–266K
14.
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia
Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Sci Rep. 2017; 7: 4583. Published online 2017 Jul 4. doi: 10.1038/s41598-017-03041-z
PMCID:
PMC5496848
AbstractArticlePDF–3.3M
15.
Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation
Edward Glasscock, Niels Voigt, Mark D. McCauley, Qiang Sun, Na Li, David Y. Chiang, Xiao-Bo Zhou, Cristina E. Molina, Dierk Thomas, Constanze Schmidt, Darlene G. Skapura, Jeffrey L. Noebels, Dobromir Dobrev, Xander H. T. Wehrens
Basic Res Cardiol. Author manuscript; available in PMC 2016 Nov 15.
Published in final edited form as: Basic Res Cardiol. 2015 Sep; 110(5): 505. Published online 2015 Jul 11. doi: 10.1007/s00395-015-0505-6
PMCID:
PMC5109931
AbstractArticlePDF–2.1M
16.
Pore size matters for potassium channel conductance
David Naranjo, Hans Moldenhauer, Matías Pincuntureo, Ignacio Díaz-Franulic
J Gen Physiol. 2016 Oct; 148(4): 277–291. doi: 10.1085/jgp.201611625
PMCID:
PMC5037345
AbstractArticlePDF–1.6M
17.
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations
Catherine A. Brownstein, Alan H. Beggs, Lance Rodan, Jiahai Shi, Meghan C. Towne, Renee Pelletier, Siqi Cao, Paul A. Rosenberg, David K. Urion, Jonathan Picker, Wen-Hann Tan, Pankaj B. Agrawal
Neurogenetics. Author manuscript; available in PMC 2016 Jun 16.
Published in final edited form as: Neurogenetics. 2016 Jan; 17(1): 11–16. Published online 2015 Sep 22. doi: 10.1007/s10048-015-0460-2
PMCID:
PMC4911217
AbstractArticlePDF–362K
18.
Medulloblastoma Comprises Four Distinct Molecular Variants
Paul A. Northcott, Andrey Korshunov, Hendrik Witt, Thomas Hielscher, Charles G. Eberhart, Stephen Mack, Eric Bouffet, Steven C. Clifford, Cynthia E. Hawkins, Pim French, James T. Rutka, Stefan Pfister, Michael D. Taylor
J Clin Oncol. 2011 Apr 10; 29(11): 1408–1414. Published online 2010 Sep 7. doi: 10.1200/JCO.2009.27.4324
PMCID:
PMC4874239
AbstractArticlePDF–1.0M
19.
The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels
Szu-Han Chen, Ssu-Ju Fu, Jing-Jia Huang, Chih-Yung Tang
Sci Rep. 2016; 6: 19378. Published online 2016 Jan 18. doi: 10.1038/srep19378
PMCID:
PMC4726062
AbstractArticlePDF–1.6M
20.
Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1
Susan Elizabeth Tomlinson, Sanjeev Rajakulendran, Stella Veronica Tan, Tracey Dawn Graves, Doris-Eva Bamiou, Robyn W Labrum, David Burke, Carolyn M Sue, Paola Giunti, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna
J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1107–1112. Published online 2013 Jan 24. doi: 10.1136/jnnp-2012-304131
PMCID:
PMC4332158
AbstractArticlePDF–2.4M

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