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Select item 107173281.

Control of ionic selectivity by a pore helix residue in the Kv1.2 channel

Chia-Chia Chao, Chieh-Chen Huang, Chang-Shin Kuo, Yuk-Man Leung

J Physiol Sci. 2010 Nov; 60(6): 441–446. Published online 2010 Sep 15. doi: 10.1007/s12576-010-0111-1

PMCID:: PMC10717328

Abstract Article PDF–1.1M

Select item 91699472.

An epilepsy-associated K_V1.2 charge-transfer-center mutation impairs K_V1.2 and K_V1.4 trafficking

Michelle Nilsson, Sarah H. Lindström, Maki Kaneko, Kaiqian Wang, Teresa Minguez-Viñas, Marina Angelini, Federica Steccanella, Deborah Holder, Michela Ottolia, Riccardo Olcese, Antonios Pantazis

Proc Natl Acad Sci U S A. 2022 Apr 26; 119(17): e2113675119. Published online 2022 Apr 19. doi: 10.1073/pnas.2113675119

PMCID:: PMC9169947

Abstract Article PDF–3.3M

Select item 81650303.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 81051644.

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Marie Hully, Tommaso Lo Barco, Anna Kaminska, Giulia Barcia, Claude Cances, Cyril Mignot, Isabelle Desguerre, Nicolas Garcelon, Edor Kabashi, Rima Nabbout

Genet Med. 2021; 23(5): 968–971. Published online 2021 Jan 26. doi: 10.1038/s41436-020-01039-z

PMCID:: PMC8105164

Abstract Article PDF–735K

Select item 79992215.

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke, Steffen Syrbe

Int J Mol Sci. 2021 Mar; 22(6): 2824. Published online 2021 Mar 10. doi: 10.3390/ijms22062824

PMCID:: PMC7999221

Abstract Article PDF–1.8M

Select item 72943246.

Notch enhances Ca²⁺ entry by activating calcium-sensing receptors and inhibiting voltage-gated K⁺ channels

Shanshan Song, Aleksandra Babicheva, Tengteng Zhao, Ramon J. Ayon, Marisela Rodriguez, Shamin Rahimi, Francesca Balistrieri, Angela Harrington, John Y.-J. Shyy, Patricia A. Thistlethwaite, Ayako Makino, Jason X.-J. Yuan

Am J Physiol Cell Physiol. 2020 May 1; 318(5): C954–C968. Published online 2020 Mar 18. doi: 10.1152/ajpcell.00487.2019

PMCID:: PMC7294324

Abstract Article

Select item 71699837.

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

Abstract Article PDF–5.4M

Select item 67035768.

Altered Distribution of Juxtaparanodal K_v1.2 Subunits Mediates Peripheral Nerve Hyperexcitability in Type 2 Diabetes Mellitus

Jennifer Zenker, Olivier Poirot, Anne-Sophie de Preux Charles, Estelle Arnaud, Jean-Jacques Médard, Catherine Lacroix, Thierry Kuntzer, Roman Chrast

J Neurosci. 2012 May 30; 32(22): 7493–7498. doi: 10.1523/JNEUROSCI.0719-12.2012

PMCID:: PMC6703576

Abstract Article PDF–1.1M

Select item 55000639.

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

Abstract Article PDF–266K

Select item 512948810.

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

Katherine L. Helbig, Ulrike B.S. Hedrich, Deepali N. Shinde, Ilona Krey, Anne‐Christin Teichmann, Julia Hentschel, Julian Schubert, Adam C. Chamberlin, Robert Huether, Hsiao‐Mei Lu, Wendy A. Alcaraz, Sha Tang, Chelsy Jungbluth, Sarah L. Dugan, Leena Vainionpää, Kathrin N. Karle, Matthis Synofzik, Ludger Schöls, Rebecca Schüle, Anna‐Elina Lehesjoki, Ingo Helbig, Holger Lerche, Johannes R. Lemke

Ann Neurol. 2016 Oct; 80(4): 638–642. Published online 2016 Sep 9. doi: 10.1002/ana.24762

PMCID:: PMC5129488

Abstract Article PDF–323K

Select item 510994911.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Mark A. Corbett, Susannah T. Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L. Carvill, Candace T. Myers, Katherine B. Howell, Snezana Maljevic, Holger Lerche, Elena V. Gazina, Heather C. Mefford, Melanie Bahlo, Samuel F. Berkovic, Steven Petrou, Ingrid E. Scheffer, Jozef Gecz

Neurology. 2016 Nov 8; 87(19): 1975–1984. doi: 10.1212/WNL.0000000000003309

PMCID:: PMC5109949

Abstract Article PDF–696K

Select item 503734512.

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

Abstract Article PDF–1.6M

Select item 496098813.

Determinants of frequency-dependent regulation of Kv1.2-containing potassium channels

Victoria A. Baronas, Runying Yang, Yury Y. Vilin, Harley T. Kurata

Channels (Austin) 2016 Mar-Apr; 10(2): 158–166. Published online 2015 Dec 8. doi: 10.1080/19336950.2015.1120390

PMCID:: PMC4960988

Abstract Article PDF–1005K

Select item 462175114.

Bimodal regulation of an Elk subfamily K⁺ channel by phosphatidylinositol 4,5-bisphosphate

Xiaofan Li, Andriy Anishkin, Hansi Liu, Damian B. van Rossum, Sree V. Chintapalli, Jessica K. Sassic, David Gallegos, Kendra Pivaroff-Ward, Timothy Jegla

J Gen Physiol. 2015 Nov; 146(5): 357–374. doi: 10.1085/jgp.201511491

PMCID:: PMC4621751

Abstract Article PDF–5.1M

Select item 438050815.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Steffen Syrbe, Ulrike B.S. Hedrich, Erik Riesch, Tania Djémié, Stephan Müller, Rikke S. Møller, Bridget Maher, Laura Hernandez-Hernandez, Matthis Synofzik, Hande S. Caglayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, Heidrun Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Ludger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Sterbova, Dana C. Craiu, Dorota Hoffman-Zacharska, Christian M. Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kiess, EuroEPINOMICS RES consortium, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

Nat Genet. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Nat Genet. 2015 Apr; 47(4): 393–399. Published online 2015 Mar 9. doi: 10.1038/ng.3239

PMCID:: PMC4380508

Abstract Article PDF–590K

Select item 426658816.

A proteome-scale map of the human interactome network

Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal

Cell. Author manuscript; available in PMC 2015 Nov 20.

Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050