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Items: 1 to 20 of 22

1.
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Dan Zhao, Kristine Bonde, Laura H Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M Lyngby, Miriam G Pedersen, Charlotte Stenum-Berg, Louise Claudia Walker, Ilona Krey, Andrée Delahaye-Duriez, Lisa T Emrick, Krystal Sully, Chaya N Murali, Lindsay C Burrage, Julie Ana Plaud Gonzalez, Mered Parnes, Jennifer Friedman, Bertrand Isidor, Jérémie Lefranc, Sylvia Redon, Delphine Heron, Cyril Mignot, Boris Keren, Mélanie Fradin, Christele Dubourg, Sandra Mercier, Thomas Besnard, Benjamin Cogne, Wallid Deb, Clotilde Rivier, Donatella Milani, Maria Francesca Bedeschi, Claudia Di Napoli, Federico Grilli, Paola Marchisio, Suzanna Koudijs, Danielle Veenma, Emanuela Argilli, Sally Ann Lynch, Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela, Carolyn Brown, Diane Masser-Frye, Marilyn Jones, Leslie Patron Romero, Wenhui Laura Li, Erin Thorpe, Laura Hecher, Jessika Johannsen, Jonas Denecke, Vanda McNiven, Anna Szuto, Emma Wakeling, Vincent Cruz, Valerie Sency, Heng Wang, Juliette Piard, Fanny Kortüm, Theresia Herget, Tatjana Bierhals, Angelo Condell, Bruria Ben-Zeev, Simranpreet Kaur, John Christodoulou, Amelie Piton, Christiane Zweier, Cornelia Kraus, Alessia Micalizzi, Marina Trivisano, Nicola Specchio, Gaetan Lesca, Rikke S Møller, Zeynep Tümer, Maria Musgaard, Benedicte Gerard, Johannes R Lemke, Yun Stone Shi, Anders S Kristensen
Brain. 2024 May; 147(5): 1837–1855. Published online 2023 Dec 1. doi: 10.1093/brain/awad403
PMCID:
PMC11068105
AbstractArticlePDF–1.9M
2.
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
3.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus
Juliette Piard, Matthieu Béreau, Wenshu XiangWei, Thomas Wirth, Daniel Amsallem, Lauren Buisson, Philippe Richard, Nana Liu, Yuchen Xu, Scott J. Myers, Stephen F. Traynelis, Jameleddine Chelly, Mathieu Anheim, Martine Raynaud, Lionel Van Maldergem, Hongjie Yuan
Mov Disord. Author manuscript; available in PMC 2022 Jun 13.
Published in final edited form as: Mov Disord. 2020 Jul; 35(7): 1224–1232. Published online 2020 May 5. doi: 10.1002/mds.28058
PMCID:
PMC9190290
AbstractArticlePDF–822K
4.
The presynaptic glycine transporter GlyT2 is regulated by the Hedgehog pathway in vitro and in vivo
Andrés de la Rocha-Muñoz, Enrique Núñez, Anjali Amrapali Vishwanath, Sergio Gómez-López, Dhanasak Dhanasobhon, Nelson Rebola, Beatriz López-Corcuera, Jaime de Juan-Sanz, Carmen Aragón
Commun Biol. 2021; 4: 1197. Published online 2021 Oct 18. doi: 10.1038/s42003-021-02718-6
PMCID:
PMC8523746
AbstractArticlePDF–865K
5.
A proline-rich motif in the large intracellular loop of the glycine receptor α1 subunit interacts with the Pleckstrin homology domain of collybistin
Ulrike Breitinger, Kristina Weinländer, Yvonne Pechmann, Georg Langlhofer, Ralf Enz, Cord-Michael Becker, Heinrich Sticht, Matthias Kneussel, Carmen Villmann, Hans-Georg Breitinger
J Adv Res. 2021 Mar; 29: 95–106. Published online 2020 Oct 8. doi: 10.1016/j.jare.2020.09.009
PMCID:
PMC8020344
AbstractArticlePDF–1.6M
6.
Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene
Naveen Parkash Gupta, Vinita Verma, Saurabh Chopra, Vivek Choudhury
BMJ Case Rep. 2020; 13(12): e236152. Published online 2020 Dec 15. doi: 10.1136/bcr-2020-236152
PMCID:
PMC7745309
AbstractArticlePDF–1.3M
7.
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
8.
Novel mutations in SLC6A5 with benign course in hyperekplexia
Hormos Salimi Dafsari, Amit Kawalia, Rosanne Sprute, Mert Karakaya, Anna Malenica, Peter Herkenrath, Peter Nürnberg, Susanne Motameny, Holger Thiele, Sebahattin Cirak
Cold Spring Harb Mol Case Stud. 2019 Dec; 5(6): a004465. doi: 10.1101/mcs.a004465
PMCID:
PMC6913151
AbstractArticlePDF–5.0M
9.
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
10.
Propofol Restores the Function of “Hyperekplexic” Mutant Glycine Receptors in Xenopus Oocytes and Mice
Sean Michael O'Shea, Lore Becker, Hans Weiher, Heinrich Betz, Bodo Laube
J Neurosci. 2004 Mar 3; 24(9): 2322–2327. doi: 10.1523/JNEUROSCI.4675-03.2004
PMCID:
PMC6730415
AbstractArticlePDF–182K
11.
The Glycine Transporter GlyT2 Controls the Dynamics of Synaptic Vesicle Refilling in Inhibitory Spinal Cord Neurons
France Rousseau, Karin R. Aubrey, Stéphane Supplisson
J Neurosci. 2008 Sep 24; 28(39): 9755–9768. doi: 10.1523/JNEUROSCI.0509-08.2008
PMCID:
PMC6671229
AbstractArticlePDF–10M
12.
A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao, Binlu Zhu
BMC Med Genet. 2017; 18: 110. Published online 2017 Oct 6. doi: 10.1186/s12881-017-0476-6
PMCID:
PMC5631533
AbstractArticlePDF–950K
13.
Molecular Basis of the Dominant Negative Effect of a Glycine Transporter 2 Mutation Associated with Hyperekplexia
Esther Arribas-González, Jaime de Juan-Sanz, Carmen Aragón, Beatriz López-Corcuera
J Biol Chem. 2015 Jan 23; 290(4): 2150–2165. Published online 2014 Dec 5. doi: 10.1074/jbc.M114.587055
PMCID:
PMC4303667
AbstractArticlePDF–3.3M
14.
Presynaptic Control of Glycine Transporter 2 (GlyT2) by Physical and Functional Association with Plasma Membrane Ca2+-ATPase (PMCA) and Na+-Ca2+ Exchanger (NCX)
Jaime de Juan-Sanz, Enrique Núñez, Francisco Zafra, María Berrocal, Isaac Corbacho, Ignacio Ibáñez, Esther Arribas-González, Daniel Marcos, Beatriz López-Corcuera, Ana M. Mata, Carmen Aragón
J Biol Chem. 2014 Dec 5; 289(49): 34308–34324. Published online 2014 Oct 14. doi: 10.1074/jbc.M114.586966
PMCID:
PMC4256361
AbstractArticlePDF–4.6M
15.
Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
Emese Horváth, Katalin Farkas, Ágnes Herczegfalvi, Nikoletta Nagy, Márta Széll
J Med Case Rep. 2014; 8: 233. Published online 2014 Jun 26. doi: 10.1186/1752-1947-8-233
PMCID:
PMC4096538
AbstractArticlePDF–562K
16.
Distinct phenotypes in zebrafish models of human startle disease
Lisa R. Ganser, Qing Yan, Victoria M. James, Robert Kozol, Maya Topf, Robert J. Harvey, Julia E. Dallman
Neurobiol Dis. 2013 Dec; 60: 139–151. doi: 10.1016/j.nbd.2013.09.002
PMCID:
PMC3972633
AbstractArticle
17.
Propofol Modulation of α1 Glycine Receptors Does Not Require a Structural Transition at Adjacent Subunits That Is Crucial to Agonist-Induced Activation
Timothy Lynagh, Alexander Kunz, Bodo Laube
ACS Chem Neurosci. 2013 Nov 20; 4(11): 1469–1478. Published online 2013 Aug 30. doi: 10.1021/cn400134p
PMCID:
PMC3837372
AbstractArticlePDF–2.3M
18.
Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor β-subunit: an animal model of startle disease
Lore Becker, Bettina Hartenstein, Johannes Schenkel, Jochen Kuhse, Heinrich Betz, Hans Weiher
Eur J Neurosci. 2000 Jan; 12(1): 27–32. doi: 10.1046/j.1460-9568.2000.00877.x
PMCID:
PMC3655541
AbstractArticlePDF–219K
19.
A Balanced Chromosomal Translocation Disrupting ARHGEF9 Is Associated With Epilepsy, Anxiety, Aggression, and Mental Retardation
Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans-Hilger Ropers, Kirsten Harvey, Robert J. Harvey
Hum Mutat. Author manuscript; available in PMC 2013 Apr 9.
Published in final edited form as: Hum Mutat. 2009 Jan; 30(1): 61–68. doi: 10.1002/humu.20814
PMCID:
PMC3621145
AbstractArticlePDF–2.2M
20.
4-Chloropropofol enhances chloride currents in human hyperekplexic and artificial mutated glycine receptors
Jeanne de la Roche, Martin Leuwer, Klaus Krampfl, Gertrud Haeseler, Reinhard Dengler, Vanessa Buchholz, Jörg Ahrens
BMC Neurol. 2012; 12: 104. Published online 2012 Sep 24. doi: 10.1186/1471-2377-12-104
PMCID:
PMC3517478
AbstractArticlePDF–1.2M

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