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Select item 109945351.

Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy

Guojie Qu, Julie P Merchant, Jérôme Clatot, Leah M DeFlitch, Danny J Frederick, Sheng Tang, Madeleine Salvatore, Xiaohong Zhang, Jianping Li, Stewart A Anderson, Ethan M Goldberg

Brain. 2024 Apr; 147(4): 1247–1263. Published online 2023 Nov 3. doi: 10.1093/brain/awad376

PMCID:: PMC10994535

Abstract Article PDF–1.1M

Select item 101516152.

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

Abstract Article PDF–2.9M

Select item 93676473.

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population

Mansour A. Alghamdi, Laith N. AL-Eitan, Ashwag Asiri, Doaa M. Rababa’h, Sultan A. Alqahtani, Mohammed S. Aldarami, Manar A. Alsaeedi, Raghad S. Almuidh, Abdulbari A. Alzahrani, Ahmad H. Sakah, Eman Mohamad El Nashar, Mansour Y. Otaif, Nawal F. Abdel Ghaffar

Ann Med. 2022; 54(1): 1938–1951. Published online 2022 Jul 8. doi: 10.1080/07853890.2022.2096257

PMCID:: PMC9367647

Abstract Article PDF–1.2M

Select item 89172004.

Structural basis for modulation of human Na_V1.3 by clinical drug and selective antagonist

Xiaojing Li, Feng Xu, Hao Xu, Shuli Zhang, Yiwei Gao, Hongwei Zhang, Yanli Dong, Yanchun Zheng, Bei Yang, Jianyuan Sun, Xuejun Cai Zhang, Yan Zhao, Daohua Jiang

Nat Commun. 2022; 13: 1286. Published online 2022 Mar 11. doi: 10.1038/s41467-022-28808-5

PMCID:: PMC8917200

Abstract Article PDF–2.5M

Select item 85521045.

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, Christopher H. Thompson, Seok Kyu Kang, Katrien Stouffs, Anna E. Jansen, Lieve Verstraete, Adeline Jacquinet, Elena Parrini, Renzo Guerrini, Yuh Fujiwara, Satoko Miyatake, Bruria Ben-Zeev, Haim Bassan, Orit Reish, Daphna Marom, Natalie Hauser, Thuy-Anh Vu, Sally Ackermann, Careni E. Spencer, Natalie Lippa, Shraddha Srinivasan, Agnieszka Charzewska, Dorota Hoffman-Zacharska, David Fitzpatrick, Victoria Harrison, Pradeep Vasudevan, Shelagh Joss, Daniela T. Pilz, Katherine A. Fawcett, Ingo Helbig, Naomichi Matsumoto, Jennifer A. Kearney, Andrew E. Fry, Ethan M. Goldberg

Ann Neurol. Author manuscript; available in PMC 2021 Oct 28.

Published in final edited form as: Ann Neurol. 2020 Aug; 88(2): 348–362. Published online 2020 Jul 9. doi: 10.1002/ana.25809

PMCID:: PMC8552104

Abstract Article PDF–1.4M

Select item 71404506.

Hypermethylation of UCHL1 Promotes Metastasis of Nasopharyngeal Carcinoma by Suppressing Degradation of Cortactin (CTTN)

Yin Zhao, Yuan Lei, Shi-Wei He, Ying-Qin Li, Ya-Qin Wang, Xiao-Hong Hong, Ye-Lin Liang, Jun-Yan Li, Yang Chen, Wei-Jie Luo, Pan-Pan Zhang, Xiao-Jing Yang, Qing-Mei He, Jun Ma, Na Liu, Ling-Long Tang

Cells. 2020 Mar; 9(3): 559. Published online 2020 Feb 27. doi: 10.3390/cells9030559

Correction in:: Cells. 2024 May; 13(10): 816.

PMCID:: PMC7140450

Abstract Article PDF–4.3M

Select item 67297707.

Contactin Associates with Sodium Channel Na_v1.3 in Native Tissues and Increases Channel Density at the Cell Surface

Bhaval S. Shah, Anthony M. Rush, Shujun Liu, Lynda Tyrrell, Joel A. Black, Sulayman D. Dib-Hajj, Stephen G. Waxman

J Neurosci. 2004 Aug 18; 24(33): 7387–7399. doi: 10.1523/JNEUROSCI.0322-04.2004

PMCID:: PMC6729770

Abstract Article PDF–1.0M

Select item 62260068.

Sodium channel SCN3A (Na_V1.3) regulation of human cerebral cortical folding and oral motor development

Richard S. Smith, Connor J. Kenny, Vijay Ganesh, Ahram Jang, Rebeca Borges-Monroy, Jennifer N. Partlow, R. Sean Hill, Taehwan Shin, Allen Y. Chen, Ryan N. Doan, Anna-Kaisa Anttonen, Jaakko Ignatius, Livija Medne, Carsten G. Bönnemann, Jonathan L. Hecht, Oili Salonen, A. James Barkovich, Annapurna Poduri, Martina Wilke, Marie Claire Y. de Wit, Grazia M.S. Mancini, Laszlo Sztriha, Kiho Im, Dina Amrom, Eva Andermann, Ritva Paetau, Anna-Elina Lehesjoki, Christopher A. Walsh, Maria K. Lehtinen

Neuron. Author manuscript; available in PMC 2019 Sep 5.

Published in final edited form as: Neuron. 2018 Sep 5; 99(5): 905–913.e7. Published online 2018 Aug 23. doi: 10.1016/j.neuron.2018.07.052

PMCID:: PMC6226006

Abstract Article PDF–2.3M

Select item 61666829.

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

Abstract Article PDF–3.8M

Select item 599939610.

The HIV-1 Tat protein recruits a ubiquitin ligase to reorganize the 7SK snRNP for transcriptional activation

Tyler B Faust, Yang Li, Curtis W Bacon, Gwendolyn M Jang, Amit Weiss, Bhargavi Jayaraman, Billy W Newton, Nevan J Krogan, Iván D'Orso, Alan D Frankel

eLife. 2018; 7: e31879. Published online 2018 May 30. doi: 10.7554/eLife.31879

PMCID:: PMC5999396

Abstract Article PDF–3.6M

Select item 591298711.

Mutations in SCN3A cause early infantile epileptic encephalopathy

Tariq Zaman, Ingo Helbig, Ivana Babić Božović, Suzanne D. DeBrosse, A. Christina Bergqvist, Kimberly Wallis, Livija Medne, Aleš Maver, Borut Peterlin, Katherine L. Helbig, Xiaohong Zhang, Ethan M. Goldberg

Ann Neurol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Ann Neurol. 2018 Apr; 83(4): 703–717. Published online 2018 Mar 30. doi: 10.1002/ana.25188

PMCID:: PMC5912987

Abstract Article PDF–654K

Select item 544679012.

SCN3A deficiency associated with increased seizure susceptibility

Tyra Lamar, Carlos G. Vanoye, Jeffrey Calhoun, Jennifer C. Wong, Stacey B.B. Dutton, Benjamin S. Jorge, Milen Velinov, Andrew Escayg, Jennifer A. Kearney

Neurobiol Dis. Author manuscript; available in PMC 2018 Jun 1.

Published in final edited form as: Neurobiol Dis. 2017 Jun; 102: 38–48. Published online 2017 Feb 22. doi: 10.1016/j.nbd.2017.02.006

PMCID:: PMC5446790

Abstract Article PDF–1.3M

Select item 508937413.

A dynamic protein interaction landscape of the human centrosome-cilium interface

Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier

Cell. Author manuscript; available in PMC 2016 Dec 3.

Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065

PMCID:: PMC5089374

Abstract Article PDF–1.5M

Select item 494241814.

Mutant SOD1 protein increases Na_v1.3 channel excitability

Elif Kubat Öktem, Karen Mruk, Joshua Chang, Ata Akin, William R. Kobertz, Robert H. Brown, Jr.

J Biol Phys. 2016 Jun; 42(3): 351–370. Published online 2016 Apr 12. doi: 10.1007/s10867-016-9411-x

Correction in:: J Biol Phys. 2016 Jun; 42(3): 371.

PMCID:: PMC4942418

Abstract Article PDF–1.7M

Select item 404248115.

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome

Christine S Cheah, Ruth E Westenbroek, William H Roden, Franck Kalume, John C Oakley, Laura A Jansen, William A Catterall

Channels (Austin) 2013 Nov 1; 7(6): 468–472. Published online 2013 Aug 21. doi: 10.4161/chan.26023

PMCID:: PMC4042481

Abstract Article PDF–815K

Select item 387772016.

Novel SCN3A Variants Associated with Focal Epilepsy in Children

Carlos G. Vanoye, Christina A. Gurnett, Katherine D. Holland, Alfred L. George, Jr., Jennifer A. Kearney

Neurobiol Dis. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Neurobiol Dis. 2014 Feb; 62: 10.1016/j.nbd.2013.10.015. Published online 2013 Oct 21. doi: 10.1016/j.nbd.2013.10.015