U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from GEO Profiles

Items: 1 to 20 of 67

1.
Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome
Ghada I. Aboheimed, Maha M. AlRasheed, Sultan Almudimeegh, Karla A. Peña-Guerra, Kelly J. Cardona-Londoño, Mustafa A. Salih, Mohammed Z. Seidahmed, Futwan Al-Mohanna, Dilek Colak, Robert J. Harvey, Kirsten Harvey, Stefan T. Arold, Namik Kaya, Arnaud J. Ruiz
J Biol Chem. 2022 Jul; 298(7): 102018. Published online 2022 May 6. doi: 10.1016/j.jbc.2022.102018
PMCID:
PMC9241032
AbstractArticlePDF–2.0M
2.
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
AbstractArticlePDF–3.0M
3.
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
AbstractArticlePDF–3.2M
4.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
5.
The synthetic cannabinoid dehydroxylcannabidiol restores the function of a major GABAA 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
AbstractArticlePDF–1.8M
6.
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
AbstractArticlePDF–3.4M
7.
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
AbstractArticlePDF–246K
8.
Glycine Receptor Knock-In Mice and Hyperekplexia-Like Phenotypes: Comparisons with the Null Mutant
Geoffrey S. Findlay, Rachel Phelan, Michael T. Roberts, Gregg E. Homanics, Susan E. Bergeson, Gregory F. Lopreato, S. John Mihic, Yuri A. Blednov, R. Adron Harris
J Neurosci. 2003 Sep 3; 23(22): 8051–8059. doi: 10.1523/JNEUROSCI.23-22-08051.2003
PMCID:
PMC6740502
AbstractArticlePDF–520K
9.
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
AbstractArticlePDF–3.4M
10.
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
AbstractArticlePDF–1.4M
11.
Spindle assembly checkpoint inhibition can resensitize p53-null stem cells to cancer chemotherapy
Changlong Liu, Carolyn E. Banister, Phillip J. Buckhaults
Cancer Res. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: Cancer Res. 2019 May 1; 79(9): 2392–2403. Published online 2019 Mar 12. doi: 10.1158/0008-5472.CAN-18-3024
PMCID:
PMC6497569
AbstractArticlePDF–2.2M
12.
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
AbstractArticlePDF–741K
13.
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
AbstractArticlePDF–2.0M
14.
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
AbstractArticlePDF–619K
15.
Alpha subunit-dependent glycine receptor clustering and regulation of synaptic receptor numbers
A. Patrizio, M. Renner, R. Pizzarelli, A. Triller, C. G. Specht
Sci Rep. 2017; 7: 10899. Published online 2017 Sep 7. doi: 10.1038/s41598-017-11264-3
PMCID:
PMC5589798
AbstractArticlePDF–3.3M
16.
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
AbstractArticlePDF–2.8M
17.
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
AbstractArticlePDF–1.5M
18.
Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor Cause Hyperekplexia
Yan Zhang, Anna Bode, Bindi Nguyen, Angelo Keramidas, Joseph W. Lynch
J Biol Chem. 2016 Jul 15; 291(29): 15332–15341. Published online 2016 May 18. doi: 10.1074/jbc.M116.728592
PMCID:
PMC4946944
AbstractArticlePDF–2.5M
19.
Ethanol Modulation is Quantitatively Determined by the Transmembrane Domain of Human α1 Glycine Receptors
Suzzane Horani, Evan P. Stater, Pierre-Jean Corringer, James R. Trudell, R. Adron Harris, Rebecca J. Howard
Alcohol Clin Exp Res. Author manuscript; available in PMC 2016 Jun 1.
Published in final edited form as: Alcohol Clin Exp Res. 2015 Jun; 39(6): 962–968. Published online 2015 May 14. doi: 10.1111/acer.12735
PMCID:
PMC4452391
AbstractArticlePDF–612K
20.
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
AbstractArticlePDF–1.3M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center