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Select item 112962881.

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants

Nazanin Azarinejad Mohammadi, Philip Kiær Ahring, Vivian Wan Yu Liao, Han Chow Chua, Sebastián Ortiz de la Rosa, Katrine Marie Johannesen, Yael Michaeli-Yossef, Aline Vincent-Devulder, Catherine Meridda, Ange-Line Bruel, Alessandra Rossi, Chirag Patel, Joerg Klepper, Paolo Bonanni, Sara Minghetti, Marina Trivisano, Nicola Specchio, David Amor, Stéphane Auvin, Sarah Baer, Pierre Meyer, Mathieu Milh, Vincenzo Salpietro, Reza Maroofian, Johannes R. Lemke, Sarah Weckhuysen, Palle Christophersen, Guido Rubboli, Mary Chebib, Anders A. Jensen, Nathan L. Absalom, Rikke Steensbjerre Møller

eBioMedicine. 2024 Aug; 106: 105236. Published online 2024 Jul 11. doi: 10.1016/j.ebiom.2024.105236

PMCID:: PMC11296288

Abstract Article PDF–2.6M

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 94933943.

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 91618104.

Characterization of the GABRB2 associated neurodevelopmental disorders

Christelle Moufawad el Achkar, Merle Harrer, Lacey Smith, McKenna Kelly, Sumaiya Iqbal, Snezana Maljevic, Cristina Elena Niturad, Lisenka E.L.M. Vissers, Annapurna Poduri, Edward Yang, Dennis Lal, Holger Lerche, Rikke S. Møller, Heather E. Olson, GABRB2 Working Group

Ann Neurol. Author manuscript; available in PMC 2022 Jun 2.

Published in final edited form as: Ann Neurol. 2021 Mar; 89(3): 573–586. Published online 2020 Dec 24. doi: 10.1002/ana.25985

Correction in:: Ann Neurol. 2021 Oct 8

PMCID:: PMC9161810

Abstract Article PDF–1.8M

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 76125936.

Differential assembly diversifies GABA_A receptor structures and signalling

Andrija Sente, Rooma Desai, Katerina Naydenova, Tomas Malinauskas, Youssef Jounaidi, Jonas Miehling, Xiaojuan Zhou, Simonas Masiulis, Steven W. Hardwick, Dimitri Y. Chirgadze, Keith W. Miller, A. Radu Aricescu

Nature. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: Nature. 2022 Apr 1; 604(7904): 190–194. Published online 2022 Mar 30. doi: 10.1038/s41586-022-04517-3

PMCID:: PMC7612593

Abstract Article PDF–5.7M

Select item 68316287.

Steady-state activation of the high-affinity isoform of the α4β2δ GABA_A receptor

Spencer R. Pierce, Thomas C. Senneff, Allison L. Germann, Gustav Akk

Sci Rep. 2019; 9: 15997. Published online 2019 Nov 5. doi: 10.1038/s41598-019-52573-z

PMCID:: PMC6831628

Abstract Article PDF–1.2M

Select item 67926118.

Segregation of Different GABA_A Receptors to Synaptic and Extrasynaptic Membranes of Cerebellar Granule Cells

Zoltan Nusser, Werner Sieghart, Peter Somogyi

J Neurosci. 1998 Mar 1; 18(5): 1693–1703. doi: 10.1523/JNEUROSCI.18-05-01693.1998

PMCID:: PMC6792611

Abstract Article PDF–1.4M

Select item 67830269.

Human Neuronal γ-Aminobutyric Acid_A Receptors: Coordinated Subunit mRNA Expression and Functional Correlates in Individual Dentate Granule Cells

Amy R. Brooks-Kayal, Melissa D. Shumate, Hong Jin, Dean D. Lin, Tatiana Y. Rikhter, Kathryn L. Holloway, Douglas A. Coulter

J Neurosci. 1999 Oct 1; 19(19): 8312–8318. doi: 10.1523/JNEUROSCI.19-19-08312.1999

PMCID:: PMC6783026

Abstract Article PDF–223K

Select item 674190110.

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 622070811.

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 599733512.

Meta-analysis of GABRB2 polymorphisms and the risk of schizophrenia combined with GWAS data of the Han Chinese population and psychiatric genomics consortium

Tian Zhang, Jun Li, Hao Yu, Yongyong Shi, Zhiqiang Li, Linyan Wang, Ziqi Wang, Tianlan Lu, Lifang Wang, Weihua Yue, Dai Zhang

PLoS One. 2018; 13(6): e0198690. Published online 2018 Jun 12. doi: 10.1371/journal.pone.0198690

PMCID:: PMC5997335

Abstract Article PDF–2.4M

Select item 553161113.

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

Select item 538442314.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose

J Med Genet. 2017 Mar; 54(3): 202–211. Published online 2016 Oct 27. doi: 10.1136/jmedgenet-2016-104083

PMCID:: PMC5384423

Abstract Article PDF–5.7M

Select item 464300115.

GABRB2 Haplotype Association with Heroin Dependence in Chinese Population

Yung Su Kim, Mei Yang, Wai-Kin Mat, Shui-Ying Tsang, Zhonghua Su, Xianfei Jiang, Siu-Kin Ng, Siyu Liu, Taobo Hu, Frank Pun, Yanhui Liao, Jinsong Tang, Xiaogang Chen, Wei Hao, Hong Xue

PLoS One. 2015; 10(11): e0142049. Published online 2015 Nov 12. doi: 10.1371/journal.pone.0142049

PMCID:: PMC4643001

Abstract Article PDF–1.3M

Select item 435409816.

Inhibitory Synapse Formation in a Co-culture Model Incorporating GABAergic Medium Spiny Neurons and HEK293 Cells Stably Expressing GABA_A Receptors

Laura E. Brown, Celine Fuchs, Martin W. Nicholson, F. Anne Stephenson, Alex M. Thomson, Jasmina N. Jovanovic

J Vis Exp. 2014; (93): 52115. Published online 2014 Nov 14. doi: 10.3791/52115

PMCID:: PMC4354098

Abstract Article PDF–1.0M

Select item 420518217.

A Novel Variantin GABRB2 Associated with Intellectual Disability and Epilepsy

Siddharth Srivastava, Julie Cohen, Jonathan Pevsner, Swaroop Aradhya, Dianalee McKnight, Elizabeth Butler, Michael Johnston, Ali Fatemi

Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Am J Med Genet A. 2014 Nov; 164(11): 2914–2921. Published online 2014 Aug 13. doi: 10.1002/ajmg.a.36714

PMCID:: PMC4205182

Abstract Article PDF–990K

Select item 409907418.

Palmitoylation of Gephyrin Controls Receptor Clustering and Plasticity of GABAergic Synapses

Borislav Dejanovic, Marcus Semtner, Silvia Ebert, Tobias Lamkemeyer, Franziska Neuser, Bernhard Lüscher, Jochen C. Meier, Guenter Schwarz

PLoS Biol. 2014 Jul; 12(7): e1001908. Published online 2014 Jul 15. doi: 10.1371/journal.pbio.1001908

PMCID:: PMC4099074

Abstract Article PDF–2.3M

Select item 402898619.

GABA_A receptors can initiate the formation of functional inhibitory GABAergic synapses

Celine Fuchs, Karine Abitbol, Jemima J Burden, Audrey Mercer, Laura Brown, Jonathan Iball, F Anne Stephenson, Alex M Thomson, Jasmina N Jovanovic

Eur J Neurosci. 2013 Oct; 38(8): 3146–3158. Published online 2013 Aug 5. doi: 10.1111/ejn.12331

PMCID:: PMC4028986

Abstract Article PDF–3.8M

Select item 396709620.

Strong genetic evidence for a selective influence of GABA_A receptors on a component of the bipolar disorder phenotype

Nick Craddock, Lisa Jones, Ian R Jones, George Kirov, Elaine K Green, Detelina Grozeva, Valentina Moskvina, Ivan Nikolov, Marian L Hamshere, Damjan Vukcevic, Sian Caesar, Katharine Gordon-Smith, Christine Fraser, Ellie Russell, Nadine Norton, Gerome Breen, David St Clair, David A Collier, Allan H Young, I Nicol Ferrier, Anne Farmer, Peter McGuffin, Peter A Holmans, Wellcome Trust Case Control Consortium (WTCCC), Peter Donnelly, Michael J Owen, Michael C O’Donovan

Mol Psychiatry. Author manuscript; available in PMC 2014 Mar 27.

Published in final edited form as: Mol Psychiatry. 2010 Feb; 15(2): 146–153. Published online 2008 Jul 1. doi: 10.1038/mp.2008.66

Correction in:: volume 15 on page 1121

PMCID:: PMC3967096

Abstract Article PDF–103K

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