نتایج جستجو برای: grin1

تعداد نتایج: 155  

Journal: :Molecular pharmacology 2005
Hiroko Nakata Tohru Kozasa

G protein-regulated inducer of neurite outgrowth 1 (GRIN1) was initially identified as a binding protein for guanosine 5'-3-O-(thio)triphosphate-bound Galphaz. GRIN1 is specifically expressed in brain and interacts selectively with activated alpha subunits of the Gi subfamily. GRIN1 colocalizes with Galphao at the growth cone of neuronal cells and promotes neurite extension in Neuro2a cells whe...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2000
J N Kew A Koester J L Moreau F Jenck A M Ouagazzal V Mutel J G Richards G Trube G Fischer A Montkowski W Hundt R K Reinscheid M Pauly-Evers J A Kemp H Bluethmann

We have used site-directed mutagenesis in conjunction with homologous recombination to generate two mouse lines carrying point mutations in the glycine binding site of the NMDAR1 subunit (Grin1). Glycine concentration-response curves from acutely dissociated hippocampal neurons revealed a 5- and 86-fold reduction in receptor glycine affinity in mice carrying Grin1(D481N) and Grin1(K483Q) mutati...

2018
Andrew E Fry Katherine A Fawcett Nathanel Zelnik Hongjie Yuan Belinda A N Thompson Lilach Shemer-Meiri Thomas D Cushion Hood Mugalaasi David Sims Neil Stoodley Seo-Kyung Chung Mark I Rees Chirag V Patel Louise A Brueton Valérie Layet Fabienne Giuliano Michael P Kerr Ehud Banne Vardiella Meiner Tally Lerman-Sagie Katherine L Helbig Laura H Kofman Kristin M Knight Wenjuan Chen Varun Kannan Chun Hu Hirofumi Kusumoto Jin Zhang Sharon A Swanger Gil H Shaulsky Ghayda M Mirzaa Alison M Muir Heather C Mefford William B Dobyns Amanda B Mackenzie Jonathan G L Mullins Johannes R Lemke Nadia Bahi-Buisson Stephen F Traynelis Heledd F Iago Daniela T Pilz

Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were ext...

2014
Georgette Gafford Aaron M. Jasnow Kerry J. Ressler Andrey E. Ryabinin

Corticotropin releasing factor (CRF) dysregulation is implicated in mood and anxiety disorders such as posttraumatic stress disorder (PTSD). CRF is expressed in areas engaged in fear and anxiety processing including the central amygdala (CeA). Complicating our ability to study the contribution of CRF-containing neurons to fear and anxiety behavior is the wide variety of cell types in which CRF ...

2016
Johannes R. Lemke Kirsten Geider Katherine L. Helbig Henrike O. Heyne Hannah Schütz Julia Hentschel Carolina Courage Christel Depienne Caroline Nava Delphine Heron Rikke S. Møller Helle Hjalgrim Dennis Lal Bernd A. Neubauer Peter Nürnberg Holger Thiele Gerhard Kurlemann Georgianne L. Arnold Vikas Bhambhani Deborah Bartholdi Christeen Ramane J. Pedurupillay Doriana Misceo Eirik Frengen Petter Strømme Dennis J. Dlugos Emily S. Doherty Emilia K. Bijlsma Claudia A. Ruivenkamp Mariette J.V. Hoffer Amy Goldstein Deepa S. Rajan Vinodh Narayanan Keri Ramsey Newell Belnap Isabelle Schrauwen Ryan Richholt Bobby P.C. Koeleman Joaquim Sá Carla Mendonça Carolien G.F. de Kovel Sarah Weckhuysen Katia Hardies Peter De Jonghe Linda De Meirleir Mathieu Milh Catherine Badens Marine Lebrun Tiffany Busa Christine Francannet Amélie Piton Erik Riesch Saskia Biskup Heinrich Vogt Thomas Dorn Ingo Helbig Jacques L. Michaud Bodo Laube Steffen Syrbe

OBJECTIVE To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes. RESULTS We identified heteroz...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 2002
Theresa M Ballard Meike Pauly-Evers Guy A Higgins Abdel-Mouttalib Ouagazzal Vincent Mutel Edilio Borroni John A Kemp Horst Bluethmann James N C Kew

NMDA receptor hypofunction has been implicated in the pathophysiology of schizophrenia, and pharmacological and genetic approaches have been used to model such dysfunction. We previously have described two mouse lines carrying point mutations in the NMDA receptor glycine binding site, Grin1(D481N) and Grin1(K483Q), which exhibit 5- and 86-fold reductions in receptor glycine affinity, respective...

2015
Gregory S. Day Harald Prüss Susanne M. Benseler Tara A. Paton Andrew D. Paterson Danielle M. Andrade

OBJECTIVE To determine whether distinct single nucleotide polymorphisms (SNPs) within the glutamate receptor ionotropic NMDA 1 gene (GRIN1) are associated with NMDA receptor (NMDAR) encephalitis and whether these same variants are associated with variability in the clinical presentation and course of affected patients. METHODS We performed clinical follow-up on 48 patients with NMDAR encephal...

Journal: :Neuropharmacology 2017
Brice Mullier Christian Wolff Zara Amanda Sands Philippe Ghisdal Pierandrea Muglia Rafal Marian Kaminski Véronique Marie André

De novo gain of function mutations in GRIN2B encoding the GluN2B subunit of the N-methyl-d-aspartate (NMDA) receptor have been linked with epileptic encephalopathies, including infantile spasms. We investigated the effects of radiprodil, a selective GluN2B negative allosteric modulator and other non-selective NMDA receptor inhibitors on glutamate currents mediated by NMDA receptors containing m...

Journal: :Pharmacology, biochemistry, and behavior 2009
Viviane Labrie Steven J Clapcote John C Roder

Several compounds that promote activation of the N-methyl-d-aspartate receptor (NMDAR) glycine site have been proposed as treatments for schizophrenia, but the impact of these putative antipsychotics on anxiety remains unclear. In this study, we employed genetic and pharmacological mouse models of altered NMDAR glycine site function to examine the effects of these proposed treatments in uncondi...

2016
Li-Ching Lee Ying-Chun Cho Pei-Jung Lin Ting-Chi Yeh Chun-Yen Chang Ting-Kuang Yeh

Considerable evidence has suggested that the epigenetic regulation of N-methyl-D-aspartate (NMDA) glutamate receptors plays a crucial role in neuropsychiatric disorders. Previous exploratory studies have been primarily based on evidence from patients and have rarely sampled the general population. This exploratory study examined the relationship of single-nucleotide polymorphism (SNP) variation...

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