U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 1 to 20 of 57

1.
Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy
Raquel M. Miralles, Alexis R. Boscia, Shrinidhi Kittur, Jessica C. Hanflink, Payal S. Panchal, Matthew S. Yorek, Tyler C. J. Deutsch, Caeley M. Reever, Shreya R. Vundela, Eric R. Wengert, Manoj K. Patel
JCI Insight. 2024 Oct 22; 9(20): e181005. Published online 2024 Oct 22. doi: 10.1172/jci.insight.181005
PMCID:
PMC11529981
AbstractArticlePDF–1.2M
2.
DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples
Fenglong Jiao, Clinton Yu, Andrew Wheat, Lijun Chen, Tung-Shing Mamie Lih, Hui Zhang, Lan Huang
J Proteome Res. Author manuscript; available in PMC 2024 Aug 3.
Published in final edited form as: J Proteome Res. 2024 Aug 2; 23(8): 3269–3279. Published online 2024 Feb 9. doi: 10.1021/acs.jproteome.3c00832
PMCID:
PMC11296914
AbstractArticlePDF–1.7M
3.
Coupling of Slack and NaV1.6 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
AbstractArticlePDF–24M
4.
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
AbstractArticlePDF–1.1M
5.
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
6.
Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell
Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low
Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120
PMCID:
PMC10151615
AbstractArticlePDF–2.9M
7.
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
AbstractArticlePDF–1.8M
8.
Structure of human NaV1.6 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
AbstractArticlePDF–3.0M
9.
Cryo-EM structure of human voltage-gated sodium channel Nav1.6
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
AbstractArticlePDF–2.5M
10.
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
AbstractArticlePDF–3.6M
11.
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
AbstractArticlePDF–1.0M
12.
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
AbstractArticlePDF–1.5M
13.
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
AbstractArticlePDF–327K
14.
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
AbstractArticlePDF–2.2M
15.
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
AbstractArticlePDF–134K
16.
JAK2 regulates Nav1.6 channel function via FGF14Y158 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
AbstractArticlePDF–3.3M
17.
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
AbstractArticlePDF–1.2M
18.
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
AbstractArticlePDF–1.1M
19.
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
PMCID:
PMC7523706
AbstractArticlePDF–2.3M
20.
CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability
Agnes S. Zybura, Anthony J. Baucum, II, Anthony M. Rush, Theodore R. Cummins, Andy Hudmon
J Biol Chem. 2020 Aug 14; 295(33): 11845–11865. Published online 2020 Jul 1. doi: 10.1074/jbc.RA120.014062
PMCID:
PMC7450116
AbstractArticlePDF–3.7M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center