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Select item 108677931.

Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations

Jiahui Sui, Longwu Zhan, Shengtao Ji, Wenwen Wu, Yuhan Chen, Feng Yun, Wenpeng Liang, Jie Wang, Maohong Cao, Dingding Shen, Qi Zhang

CNS Neurosci Ther. 2024 Feb; 30(2): e14583. Published online 2024 Feb 15. doi: 10.1111/cns.14583

PMCID:: PMC10867793

Abstract Article PDF–5.4M

Select item 105918982.

Epilepsy plus Blindness in Microdeletion of GABRA1 and GABRG2 in Mouse and Human

Qi Zhang, Cynthia Forster-Gibson, Eduard Bercovici, Alexandra Bernardo, Fei Ding, Wangzhen Shen, Katherine Langer, Tonia Rex, Jing-Qiong Kang

Exp Neurol. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Exp Neurol. 2023 Nov; 369: 114537. Published online 2023 Sep 11. doi: 10.1016/j.expneurol.2023.114537

PMCID:: PMC10591898

Abstract Article PDF–975K

Select item 100460373.

GABRG2 Variants Associated with Febrile Seizures

Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald

Biomolecules. 2023 Mar; 13(3): 414. Published online 2023 Feb 22. doi: 10.3390/biom13030414

PMCID:: PMC10046037

Abstract Article PDF–4.4M

Select item 96815594.

GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort

Tayyaba Saleem, Hafsa Maqbool, Nadeem Sheikh, Asima Tayyeb, Maryam Mukhtar, Aqsa Ashfaq

Biomed Res Int. 2022; 2022: 3460792. Published online 2022 Nov 15. doi: 10.1155/2022/3460792

PMCID:: PMC9681559

Abstract Article PDF–317K

Select item 94933945.

Quantitative interactome proteomics identifies a proteostasis network for GABA_A receptors

Ya-Juan Wang, Xiao-Jing Di, Ting-Wei Mu

J Biol Chem. 2022 Oct; 298(10): 102423. Published online 2022 Aug 27. doi: 10.1016/j.jbc.2022.102423

PMCID:: PMC9493394

Abstract Article PDF–2.6M

Select item 88421656.

CFTR interactome mapping using the mammalian membrane two‐hybrid high‐throughput screening system

Sang Hyun Lim, Jamie Snider, Liron Birimberg‐Schwartz, Wan Ip, Joana C Serralha, Hugo M Botelho, Miquéias Lopes‐Pacheco, Madalena C Pinto, Mohamed Taha Moutaoufik, Mara Zilocchi, Onofrio Laselva, Mohsen Esmaeili, Max Kotlyar, Anna Lyakisheva, Priscilla Tang, Lucía López Vázquez, Indira Akula, Farzaneh Aboualizadeh, Victoria Wong, Ingrid Grozavu, Teuta Opacak‐Bernardi, Zhong Yao, Meg Mendoza, Mohan Babu, Igor Jurisica, Tanja Gonska, Christine E Bear, Margarida D Amaral, Igor Stagljar

Mol Syst Biol. 2022 Feb; 18(2): e10629. Published online 2022 Feb 14. doi: 10.15252/msb.202110629

PMCID:: PMC8842165

Abstract Article PDF–3.0M

Select item 85048317.

Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment

Shitao Wang, Xianjun Zhang, Liang Zhou, Qian Wu, Yanbing Han

Clin Transl Sci. 2021 Sep; 14(5): 1725–1733. Published online 2021 May 1. doi: 10.1111/cts.12997

PMCID:: PMC8504831

Abstract Article PDF–693K

Select item 83802148.

GABA_A receptors: structure, function, pharmacology, and related disorders

Amr Ghit, Dina Assal, Ahmed S. Al-Shami, Diaa Eldin E. Hussein

J Genet Eng Biotechnol. 2021 Dec; 19: 123. Published online 2021 Aug 21. doi: 10.1186/s43141-021-00224-0

PMCID:: PMC8380214

Abstract Article PDF–1016K

Select item 82438449.

The K328M substitution in the human GABA_A receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice

Shimian Qu, Chengwen Zhou, Rachel Howe, Wangzhen Shen, Xuan Huang, Mackenzie Catron, Ningning Hu, Robert L. Macdonald

Neurobiol Dis. Author manuscript; available in PMC 2021 Jun 30.

Published in final edited form as: Neurobiol Dis. 2021 May; 152: 105296. Published online 2021 Feb 11. doi: 10.1016/j.nbd.2021.105296

PMCID:: PMC8243844

Article PDF–862K

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

Abstract Article PDF–2.2M

Select item 745010011.

Photoaffinity labeling identifies an intersubunit steroid-binding site in heteromeric GABA type A (GABA_A) receptors

Selwyn S. Jayakar, David C. Chiara, Xiaojuan Zhou, Bo Wu, Karol S. Bruzik, Keith W. Miller, Jonathan B. Cohen

J Biol Chem. 2020 Aug 14; 295(33): 11495–11512. Published online 2020 Jun 15. doi: 10.1074/jbc.RA120.013452

PMCID:: PMC7450100

Abstract Article PDF–3.6M

Select item 674190112.

Interaction of Calcineurin and Type-A GABA Receptor γ₂ Subunits Produces Long-Term Depression at CA1 Inhibitory Synapses

Jian Wang, ShuHong Liu, Ursula Haditsch, WeiHong Tu, Kimberley Cochrane, Gholamreza Ahmadian, Linda Tran, Jadine Paw, YuTian Wang, Isabelle Mansuy, Michael M. Salter, YouMing Lu

J Neurosci. 2003 Feb 1; 23(3): 826–836. doi: 10.1523/JNEUROSCI.23-03-00826.2003

PMCID:: PMC6741901

Abstract Article PDF–571K

Select item 672995313.

The GABA_A Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum

Jingqiong Kang, Robert L. Macdonald

J Neurosci. 2004 Oct 6; 24(40): 8672–8677. doi: 10.1523/JNEUROSCI.2717-04.2004

Correction in:: J Neurosci. 2004 Oct 13; 24(41): 0.

PMCID:: PMC6729953

Abstract Article PDF–331K

Select item 649779114.

Diazepam Accelerates GABA_AR Synaptic Exchange and Alters Intracellular Trafficking

Joshua M. Lorenz-Guertin, Matthew J. Bambino, Sabyasachi Das, Susan T. Weintraub, Tija C. Jacob

Front Cell Neurosci. 2019; 13: 163. Published online 2019 Apr 26. doi: 10.3389/fncel.2019.00163

PMCID:: PMC6497791

Abstract Article PDF–4.1M

Select item 636480715.

Cryo-EM structure of the human α1β3γ2 GABA_A receptor in a lipid bilayer

Duncan Laverty, Rooma Desai, Tomasz Uchański, Simonas Masiulis, Wojciech J. Stec, Tomas Malinauskas, Jasenko Zivanov, Els Pardon, Jan Steyaert, Keith W. Miller, A. Radu Aricescu

Nature. Author manuscript; available in PMC 2019 Jul 2.

Published in final edited form as: Nature. 2019 Jan 2 : 10.1038/s41586-018-0833-4. doi: 10.1038/s41586-018-0833-4

PMCID:: PMC6364807

Abstract Article PDF–7.2M

Select item 622070816.

Structure of a human synaptic GABA-A receptor

Shaotong Zhu, Colleen M. Noviello, Jinfeng Teng, Richard M. Walsh, Jr., Jeong Joo Kim, Ryan E. Hibbs

Nature. Author manuscript; available in PMC 2018 Dec 27.

Published in final edited form as: Nature. 2018 Jul; 559(7712): 67–72. Published online 2018 Jun 27. doi: 10.1038/s41586-018-0255-3

PMCID:: PMC6220708

Abstract Article PDF–6.8M

Select item 616978417.

Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype

Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D. Picker, Sharyn Lincoln, David A. Sweetser, Lauren C. Briere, Harini Chellamani, Members of the Undiagnosed Diseases Network, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight

J Neurogenet. Author manuscript; available in PMC 2018 Oct 3.

Published in final edited form as: J Neurogenet. 2017 Mar-Jun; 31(1-2): 30–36. Published online 2017 May 2. doi: 10.1080/01677063.2017.1315417

PMCID:: PMC6169784

Abstract Article PDF–774K

Select item 564080718.

An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABA_A Receptors

Elizabeth C. Davenport, Valentina Pendolino, Georgina Kontou, Thomas P. McGee, David F. Sheehan, Guillermo López-Doménech, Mark Farrant, Josef T. Kittler

Cell Rep. 2017 Oct 3; 21(1): 70–83. Published online 2017 Oct 3. doi: 10.1016/j.celrep.2017.09.025

PMCID:: PMC5640807

Abstract Article

Select item 555409819.

OVEREXPRESSING WILD-TYPE γ2 SUBUNITS RESCUED THE SEIZURE PHENOTYPE IN GABRG2^+/Q390X DRAVET SYNDROME MICE

Xuan Huang, Chengwen Zhou, Mengnan Tian, Jing-Qiong Kang, Wangzhen Shen, Kelienne Verdier, Aurea Pimenta, Robert L Macdonald

Epilepsia. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Epilepsia. 2017 Aug; 58(8): 1451–1461. Published online 2017 Jun 6. doi: 10.1111/epi.13810

PMCID:: PMC5554098

Abstract Article PDF–1.6M

Select item 553161120.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

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