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Select item 105918981.

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 94933942.

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 84317973.

In Silico Screening of Novel α1-GABA_A Receptor PAMs towards Schizophrenia Based on Combined Modeling Studies of Imidazo [1,2-a]-Pyridines

Xiaojiao Zheng, Chenchen Wang, Na Zhai, Xiaogang Luo, Genyan Liu, Xiulian Ju

Int J Mol Sci. 2021 Sep; 22(17): 9645. Published online 2021 Sep 6. doi: 10.3390/ijms22179645

PMCID:: PMC8431797

Abstract Article PDF–6.8M

Select item 83230414.

Inhibition of microRNA‐129–2‐3p protects against refractory temporal lobe epilepsy by regulating GABRA1

Guan‐Yu Wang, Zhi‐Lin Luan, Ning‐Wei Che, De‐Bin Yan, Xiao‐Wan Sun, Cong Zhang, Jian Yin

Brain Behav. 2021 Jul; 11(7): e02195. Published online 2021 May 24. doi: 10.1002/brb3.2195

PMCID:: PMC8323041

Abstract Article PDF–1.3M

Select item 81650305.

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 74501006.

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 73634767.

Differential Coassembly of α1-GABA_ARs Associated with Epileptic Encephalopathy

Saad Hannan, Aida H.B. Affandi, Marielle Minere, Charlotte Jones, Pollyanna Goh, Gary Warnes, Bernt Popp, Regina Trollmann, Dean Nizetic, Trevor G. Smart

J Neurosci. 2020 Jul 15; 40(29): 5518–5530. doi: 10.1523/JNEUROSCI.2748-19.2020

PMCID:: PMC7363476

Abstract Article PDF–3.4M

Select item 70128628.

A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro

Friederike Steudle, Sabah Rehman, Konstantina Bampali, Xenia Simeone, Zsofia Rona, Erwin Hauser, Wolfgang M. Schmidt, Petra Scholze, Margot Ernst

Sci Rep. 2020; 10: 2379. Published online 2020 Feb 11. doi: 10.1038/s41598-020-59323-6

PMCID:: PMC7012862

Abstract Article PDF–2.5M

Select item 68566289.

Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

Martin Krenn, Margot Ernst, Matthias Tomschik, Marco Treven, Matias Wagner, Dominik S. Westphal, Thomas Meitinger, Ekaterina Pataraia, Fritz Zimprich, Susanne Aull‐Watschinger

Ann Clin Transl Neurol. 2019 Nov; 6(11): 2317–2322. Published online 2019 Sep 30. doi: 10.1002/acn3.50895

PMCID:: PMC6856628

Abstract Article PDF–1.1M

Select item 684254410.

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang

Mol Brain. 2019; 12: 92. Published online 2019 Nov 10. doi: 10.1186/s13041-019-0513-9

Correction in:: Mol Brain. 2020; 13: 50.

PMCID:: PMC6842544

Abstract Article PDF–4.4M

Select item 674190111.

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 672932112.

The Juvenile Myoclonic Epilepsy GABA_A Receptor α1 Subunit Mutation A322D Produces Asymmetrical, Subunit Position-Dependent Reduction of Heterozygous Receptor Currents and α1 Subunit Protein Expression

Martin J. Gallagher, Luyan Song, Fazal Arain, Robert L. Macdonald

J Neurosci. 2004 Jun 16; 24(24): 5570–5578. doi: 10.1523/JNEUROSCI.1301-04.2004

PMCID:: PMC6729321

Abstract Article PDF–304K

Select item 659863413.

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies

Ciria C Hernandez, Wenshu XiangWei, Ningning Hu, Dingding Shen, Wangzhen Shen, Andre H Lagrange, Yujia Zhang, Lifang Dai, Changhong Ding, Zhaohui Sun, Jiasheng Hu, Hongmin Zhu, Yuwu Jiang, Robert L Macdonald

Brain. 2019 Jul; 142(7): 1938–1954. Published online 2019 May 5. doi: 10.1093/brain/awz123

PMCID:: PMC6598634

Abstract Article PDF–1.3M

Select item 649279714.

Evaluating the Role of Genetic Variants on first‐line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels

Ruchi Baghel, Sandeep Grover, Harpreet Kaur, Ajay Jajodia, Chitra Rawat, Ankit Srivastava, Suman Kushwaha, Rachna Agarwal, Sangeeta Sharma, Ritushree Kukreti

CNS Neurosci Ther. 2016 Sep; 22(9): 740–757. Published online 2016 Jun 1. doi: 10.1111/cns.12570

PMCID:: PMC6492797

Abstract Article PDF–151K

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 616231817.

Structural basis of neurosteroid anesthetic action on GABA_A receptors

Qiang Chen, Marta M. Wells, Palaniappa Arjunan, Tommy S. Tillman, Aina E. Cohen, Yan Xu, Pei Tang

Nat Commun. 2018; 9: 3972. Published online 2018 Sep 28. doi: 10.1038/s41467-018-06361-4

PMCID:: PMC6162318

Abstract Article PDF–1.5M

Select item 576397318.

Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome

Inge Heulens, Charlotte D'Hulst, Sien Braat, Liesbeth Rooms, R. Frank Kooy

ScientificWorldJournal. 2010; 10: 2198–2206. Published online 2010 Nov 4. doi: 10.1100/tsw.2010.211

PMCID:: PMC5763973

Abstract PDF–377K

Select item 574171919.

Interactions between GHRH and GABAARs in the brains of patients with epilepsy and in animal models of epilepsy

Shirong Tang, Zhong Luo, Xiaowei Qiu, Yanke Zhang, Xi Lu, Hao huang, Zhongxiang Xu, Zucai Xu

Sci Rep. 2017; 7: 18110. Published online 2017 Dec 22. doi: 10.1038/s41598-017-18416-5

PMCID:: PMC5741719

Abstract Article PDF–2.1M

Select item 544814420.

Genomic diagnosis for children with intellectual disability and/or developmental delay

Kevin M. Bowling, Michelle L. Thompson, Michelle D. Amaral, Candice R. Finnila, Susan M. Hiatt, Krysta L. Engel, J. Nicholas Cochran, Kyle B. Brothers, Kelly M. East, David E. Gray, Whitley V. Kelley, Neil E. Lamb, Edward J. Lose, Carla A. Rich, Shirley Simmons, Jana S. Whittle, Benjamin T. Weaver, Amy S. Nesmith, Richard M. Myers, Gregory S. Barsh, E. Martina Bebin, Gregory M. Cooper

Genome Med. 2017; 9: 43. Published online 2017 May 30. doi: 10.1186/s13073-017-0433-1

PMCID:: PMC5448144

Abstract Article PDF–680K

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