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Select item 109425921.

Coupling of Slack and Na_V1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development

Tian Yuan, Yifan Wang, Yuchen Jin, Hui Yang, Shuai Xu, Heng Zhang, Qian Chen, Na Li, Xinyue Ma, Huifang Song, Chao Peng, Ze Geng, Jie Dong, Guifang Duan, Qi Sun, Yang Yang, Fan Yang, Zhuo Huang

eLife. 2024; 12: RP87559. Published online 2024 Jan 30. doi: 10.7554/eLife.87559

PMCID:: PMC10942592

Article PDF–24M

Select item 107927832.

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A. Dean, Samuel J. Goodchild, Janette Mezeyova, Noah Gregory Shuart, J. P. Johnson, Jr., James Lee, Aspasia Michoulas, Linda L. Huh, Linlea Armstrong, Mary B. Connolly, Michelle K. Demos

BMC Neurol. 2024; 24: 31. Published online 2024 Jan 17. doi: 10.1186/s12883-023-03478-y

PMCID:: PMC10792783

Article PDF–1.1M

Select item 101473263.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Katrine M Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina D Fenger, Ahmed Eltokhi, Maert Rannap, Nils A Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Thomas Mayer, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Sterbova, Petra Lassuthová, Marketa Vlckova, Johannes R Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M Rho, Alice W Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina E Hoei-Hansen, Pasquale Striano, Federico Zara, Helene Verhelst, Judith S Verhoeven, Hilde M H Braakman, Bert van der Zwaag, Aster V E Harder, Eva Brilstra, Manuela Pendziwiat, Sebastian Lebon, Maria Vaccarezza, Ngoc Minh Le, Jakob Christensen, Sabine Grønborg, Stephen W Scherer, Jennifer Howe, Walid Fazeli, Katherine B Howell, Richard Leventer, Chloe Stutterd, Sonja Walsh, Marion Gerard, Bénédicte Gerard, Sara Matricardi, Claudia M Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman-Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cecilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frederic Bilan, Daniel Tibussek, Margarete Koch-Hogrebe, M Scott Perry, Shoji Ichikawa, Elena Dadali, Artem Sharkov, Irina Mishina, Mikhail Abramov, Ilya Kanivets, Sergey Korostelev, Sergey Kutsev, Karen E Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M Savatt, Karen Müller-Schlüter, Haim Bassan, Artem Borovikov, Marie Cecile Nassogne, Anne Destrée, An Sofie Schoonjans, Marije Meuwissen, Marga Buzatu, Anna Jansen, Emmanuel Scalais, Siddharth Srivastava, Wen Hann Tan, Heather E Olson, Tobias Loddenkemper, Annapurna Poduri, Katherine L Helbig, Ingo Helbig, Mark P Fitzgerald, Ethan M Goldberg, Timo Roser, Ingo Borggraefe, Tobias Brünger, Patrick May, Dennis Lal, Damien Lederer, Guido Rubboli, Henrike O Heyne, Gaetan Lesca, Ulrike B S Hedrich, Jan Benda, Elena Gardella, Holger Lerche, Rikke S Møller

Brain. 2022 Sep; 145(9): 2991–3009. Published online 2021 Aug 25. doi: 10.1093/brain/awab321

PMCID:: PMC10147326

Article PDF–1.8M

Select item 99504894.

Structure of human Na_V1.6 channel reveals Na⁺ selectivity and pore blockade by 4,9-anhydro-tetrodotoxin

Yue Li, Tian Yuan, Bo Huang, Feng Zhou, Chao Peng, Xiaojing Li, Yunlong Qiu, Bei Yang, Yan Zhao, Zhuo Huang, Daohua Jiang

Nat Commun. 2023; 14: 1030. Published online 2023 Feb 23. doi: 10.1038/s41467-023-36766-9

PMCID:: PMC9950489

Article PDF–3.0M

Select item 99459695.

Cryo-EM structure of human voltage-gated sodium channel Na_v1.6

Xiao Fan, Jian Huang, Xueqin Jin, Nieng Yan

Proc Natl Acad Sci U S A. 2023 Jan 31; 120(5): e2220578120. Published online 2023 Jan 25. doi: 10.1073/pnas.2220578120

PMCID:: PMC9945969

Article PDF–2.5M

Select item 92626146.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Article PDF–3.6M

Select item 90346677.

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review

Giuseppe Donato Mangano, Antonina Fontana, Vincenzo Antona, Vincenzo Salpietro, Giuseppa Renata Mangano, Mario Giuffrè, Rosaria Nardello

Mol Genet Genomic Med. 2022 May; 10(5): e1911. Published online 2022 Mar 29. doi: 10.1002/mgg3.1911

PMCID:: PMC9034667

Article PDF–1.0M

Select item 83659588.

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss

Mol Brain. 2021; 14: 126. Published online 2021 Aug 16. doi: 10.1186/s13041-021-00838-y

PMCID:: PMC8365958

Article PDF–1.5M

Select item 81656459.

Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse

Wenxi Yu, Corrine E Smolen, Sophie F Hill, Miriam H Meisler

Hum Mol Genet. 2021 May 15; 30(10): 902–907. Published online 2021 Apr 3. doi: 10.1093/hmg/ddab092

PMCID:: PMC8165645

Article PDF–327K

Select item 816503010.

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

Article PDF–2.2M

Select item 807713511.

Gain‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia

Raymond F. Sekula, Kathleen Deeley, Hayley Denwood, Alexandre R. Vieira

Mol Genet Genomic Med. 2021 Feb; 9(2): e1587. Published online 2021 Jan 11. doi: 10.1002/mgg3.1587

PMCID:: PMC8077135

Article PDF–134K

Select item 798425412.

JAK2 regulates Nav1.6 channel function via FGF14^Y158 phosphorylation

Paul A Wadsworth, Aditya K. Singh, Nghi Nguyen, Nolan M. Dvorak, Cynthia M. Tapia, William K. Russell, Clifford Stephan, Fernanda Laezza

Biochim Biophys Acta Mol Cell Res. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Biochim Biophys Acta Mol Cell Res. 2020 Oct; 1867(10): 118786. Published online 2020 Jun 26. doi: 10.1016/j.bbamcr.2020.118786

PMCID:: PMC7984254

Article PDF–3.3M

Select item 778047313.

Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons

Andrew M Tidball, Luis F Lopez-Santiago, Yukun Yuan, Trevor W Glenn, Joshua L Margolis, J Clayton Walker, Emma G Kilbane, Christopher A Miller, E Martina Bebin, M Scott Perry, Lori L Isom, Jack M Parent

Brain. 2020 Oct; 143(10): 3025–3040. Published online 2020 Sep 24. doi: 10.1093/brain/awaa247

PMCID:: PMC7780473

Article PDF–1.2M

Select item 775637414.

Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse*

Wenxi Yu, Sophie F. Hill, James G. Xenakis, Fernando Pardo‐Manuel de Villena, Jacy L. Wagnon, Miriam H. Meisler

Epilepsia. 2020 Dec; 61(12): 2847–2856. Published online 2020 Nov 2. doi: 10.1111/epi.16741

PMCID:: PMC7756374

Article PDF–1.1M

Select item 752370615.

Loss of ER retention motif of AGR2 can impact mTORC signaling and promote cancer metastasis

Katrin Tiemann, Carolina Garri, Sang Bok Lee, Paymaneh D. Malihi, Mincheol Park, Ruth M. Alvarez, Li Peng Yap, Parag Mallick, Jonathan E. Katz, Mitchell E. Gross, Kian Kani

Oncogene. Author manuscript; available in PMC 2020 Sep 29.

Published in final edited form as: Oncogene. 2019 Apr; 38(16): 3003–3018. Published online 2018 Dec 21. doi: 10.1038/s41388-018-0638-9