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Select item 76497471.

The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents

Zhiyi Wu, Remigijus Lape, Lea Jopp‐Saile, Benjamin J. O'Callaghan, Timo Greiner, Lucia G. Sivilotti

J Physiol. 2020 Aug 15; 598(16): 3417–3438. Published online 2020 Jun 18. doi: 10.1113/JP279803

PMCID:: PMC7649747

Abstract Article PDF–3.0M

Select item 73263572.

A Novel Glycine Receptor Variant with Startle Disease Affects Syndapin I and Glycinergic Inhibition

Georg Langlhofer, Natascha Schaefer, Hans M. Maric, Angelo Keramidas, Yan Zhang, Peter Baumann, Robert Blum, Ulrike Breitinger, Kristian Strømgaard, Andreas Schlosser, Michael M. Kessels, Dennis Koch, Britta Qualmann, Hans-Georg Breitinger, Joseph W. Lynch, Carmen Villmann

J Neurosci. 2020 Jun 17; 40(25): 4954–4969. doi: 10.1523/JNEUROSCI.2490-19.2020

PMCID:: PMC7326357

Abstract Article PDF–3.2M

Select item 69525993.

The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABA_A receptor isoform in a cell model of hyperekplexia

Guichang Zou, Jing Xia, Qianqian Han, Dan Liu, Wei Xiong

J Biol Chem. 2020 Jan 3; 295(1): 138–145. Published online 2019 Nov 22. doi: 10.1074/jbc.RA119.011221

PMCID:: PMC6952599

Abstract Article PDF–1.8M

Select item 67962514.

The α1K276E Startle Disease Mutation Reveals Multiple Intermediate States in the Gating of Glycine Receptors

Remigijus Lape, Andrew J. R. Plested, Mirko Moroni, David Colquhoun, Lucia G. Sivilotti

J Neurosci. 2012 Jan 25; 32(4): 1336–1352. doi: 10.1523/JNEUROSCI.4346-11.2012

PMCID:: PMC6796251

Abstract Article PDF–3.4M

Select item 67821495.

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating

Brigitta Saul, Thomas Kuner, Diana Sobetzko, Wolfram Brune, Folker Hanefeld, Hans-Michael Meinck, Cord-Michael Becker

J Neurosci. 1999 Feb 1; 19(3): 869–877. doi: 10.1523/JNEUROSCI.19-03-00869.1999

PMCID:: PMC6782149

Abstract Article PDF–246K

Select item 66857906.

Mapping a Molecular Link between Allosteric Inhibition and Activation of the Glycine Receptor

Paul S. Miller, Maya Topf, Trevor G. Smart

Nat Struct Mol Biol. Author manuscript; available in PMC 2019 Aug 7.

Published in final edited form as: Nat Struct Mol Biol. 2008 Oct 1; 15(10): 1084–1093. Published online 2008 Sep 21. doi: 10.1038/nsmb.1492

PMCID:: PMC6685790

Abstract Article PDF–3.4M

Select item 66324447.

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

Seo-Kyung Chung, Jean-François Vanbellinghen, Jonathan G. L. Mullins, Angela Robinson, Janina Hantke, Carrie L. Hammond, Daniel F. Gilbert, Michael Freilinger, Monique Ryan, Michael C. Kruer, Amira Masri, Candan Gurses, Colin Ferrie, Kirsten Harvey, Rita Shiang, John Christodoulou, Frederick Andermann, Eva Andermann, Rhys H. Thomas, Robert J. Harvey, Joseph W. Lynch, Mark I. Rees

J Neurosci. 2010 Jul 14; 30(28): 9612–9620. doi: 10.1523/JNEUROSCI.1763-10.2010

PMCID:: PMC6632444

Abstract Article PDF–1.4M

Select item 64170788.

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri, Domenica Battaglia

BMC Med Genet. 2019; 20: 40. Published online 2019 Mar 12. doi: 10.1186/s12881-019-0779-x

PMCID:: PMC6417078

Abstract Article PDF–741K

Select item 61309649.

Multiple regions in the extracellular domain of the glycine receptor determine receptor activity

Bijun Tang, Sarah C. R. Lummis

J Biol Chem. 2018 Sep 7; 293(36): 13889–13896. Published online 2018 Jun 25. doi: 10.1074/jbc.RA118.003088

PMCID:: PMC6130964

Abstract Article PDF–2.0M

Select item 585664510.

Dimensional Traits Of Schizotypy Associated With Glycine receptor GLRA1 Polymorphism: An Exploratory Candidate-Gene Association Study

Anvi K. Vora, Amanda M. Fisher, Antonia S. New, Erin A. Hazlett, Margaret McNamara, Qiaoping Yuan, Zhifeng Zhou, Colin Hodgkinson, David Goldman, Larry J. Siever, Panos Roussos, M. Mercedes Perez-Rodriguez

J Pers Disord. Author manuscript; available in PMC 2019 Jun 1.

Published in final edited form as: J Pers Disord. 2018 Jun; 32(3): 421–432. Published online 2017 Jul 31. doi: 10.1521/pedi_2017_31_303

PMCID:: PMC5856645

Abstract Article PDF–619K

Select item 537781511.

The Startle Disease Mutation E103K Impairs Activation of Human Homomeric α1 Glycine Receptors by Disrupting an Intersubunit Salt Bridge across the Agonist Binding Site

Fatemah Safar, Elliot Hurdiss, Marios Erotocritou, Timo Greiner, Remigijus Lape, Mark W. Irvine, Guangyu Fang, David Jane, Rilei Yu, Marc A. Dämgen, Philip C. Biggin, Lucia G. Sivilotti

J Biol Chem. 2017 Mar 24; 292(12): 5031–5042. Published online 2017 Feb 7. doi: 10.1074/jbc.M116.767616

PMCID:: PMC5377815

Abstract Article PDF–2.8M

Select item 530314512.

Disruption of a putative intersubunit electrostatic bond enhances agonist efficacy at the human α1 glycine receptor

Brian T. Welsh, Jelena Todorovic, Dean Kirson, Hunter M. Allen, Michelle D. Bayly, S. John Mihic

Brain Res. Author manuscript; available in PMC 2018 Feb 15.

Published in final edited form as: Brain Res. 2017 Feb 15; 1657: 148–155. Published online 2016 Dec 5. doi: 10.1016/j.brainres.2016.11.024

PMCID:: PMC5303145

Abstract Article PDF–1.5M

Select item 435277413.

Allosteric and hyperekplexic mutant phenotypes investigated on an α₁ glycine receptor transmembrane structure

Gustavo Moraga-Cid, Ludovic Sauguet, Christèle Huon, Laurie Malherbe, Christine Girard-Blanc, Stéphane Petres, Samuel Murail, Antoine Taly, Marc Baaden, Marc Delarue, Pierre-Jean Corringer

Proc Natl Acad Sci U S A. 2015 Mar 3; 112(9): 2865–2870. Published online 2015 Feb 17. doi: 10.1073/pnas.1417864112

PMCID:: PMC4352774

Abstract Article PDF–1.3M

Select item 434247514.

Correlating Structural and Energetic Changes in Glycine Receptor Activation

Suzanne Scott, Joseph W. Lynch, Angelo Keramidas

J Biol Chem. 2015 Feb 27; 290(9): 5621–5634. Published online 2015 Jan 8. doi: 10.1074/jbc.M114.616573

PMCID:: PMC4342475

Abstract Article PDF–2.2M

Select item 428715715.

Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

Natascha Schaefer, Christoph J. Kluck, Kerry L. Price, Heike Meiselbach, Nadine Vornberger, Stephan Schwarzinger, Stephanie Hartmann, Georg Langlhofer, Solveig Schulz, Nadja Schlegel, Knut Brockmann, Bryan Lynch, Cord-Michael Becker, Sarah C.R. Lummis, Carmen Villmann

J Neurosci. 2015 Jan 7; 35(1): 422–437. doi: 10.1523/JNEUROSCI.1509-14.2015

PMCID:: PMC4287157

Abstract Article PDF–4.8M

Select item 383712016.

Analysis of Hyperekplexia Mutations Identifies Transmembrane Domain Rearrangements That Mediate Glycine Receptor Activation

Anna Bode, Joseph W. Lynch

J Biol Chem. 2013 Nov 22; 288(47): 33760–33771. Published online 2013 Oct 4. doi: 10.1074/jbc.M113.513804

PMCID:: PMC3837120

Abstract Article PDF–2.0M

Select item 371847717.

Glycine Receptor Autoimmune Spectrum With Stiff-Man Syndrome Phenotype

Andrew McKeon, Eugenia Martinez-Hernandez, Eric Lancaster, Joseph Y. Matsumoto, Robert J. Harvey, Kathleen M. McEvoy, Sean J. Pittock, Vanda A. Lennon, Josep Dalmau

JAMA Neurol. Author manuscript; available in PMC 2013 Jul 22.

Published in final edited form as: JAMA Neurol. 2013 Jan; 70(1): 44–50. doi: 10.1001/jamaneurol.2013.574