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Items: 1 to 20 of 115

1.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms
Lotten Ragnarsson, Zihan Zhang, Sooraj S. Das, Poanna Tran, Åsa Andersson, Vincent des Portes, Cecilia Desmettre Altuzarra, Ganaelle Remerand, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Gaetan Lesca, Victor Anggono, Irina Vetter, Angelo Keramidas
Epilepsia. 2023 Dec; 64(12): 3377–3388. Published online 2023 Oct 17. doi: 10.1111/epi.17776
PMCID:
PMC10952597
AbstractArticlePDF–6.1M
2.
Pluripotential GluN1 (NMDA NR1): Functional Significance in Cellular Nuclei in Pain/Nociception
Terry A. McNearney, Karin N. Westlund
Int J Mol Sci. 2023 Sep; 24(17): 13196. Published online 2023 Aug 25. doi: 10.3390/ijms241713196
PMCID:
PMC10488196
AbstractArticlePDF–4.6M
3.
NMDA receptor modulation and severe acute respiratory syndrome treatment
Blaise M. Costa
Version 1. F1000Res. 2021; 10: Chem Inf Sci-1060. Published online 2021 Oct 18. doi: 10.12688/f1000research.73897.1
PMCID:
PMC9745209
AbstractArticlePDF–256K
4.
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum
Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Juan J. García-Peñas, Patricia Fuentes, Salvador Ibáñez-Micó, Laura Cuesta, Ramón Cancho, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Olga Alonso-Luengo, Ignacio Málaga, Antonio Hedrera-Fernández, Àngels García-Cazorla, David Soto, Mireia Olivella, Xavier Altafaj
Int J Mol Sci. 2021 Dec; 22(23): 12656. Published online 2021 Nov 23. doi: 10.3390/ijms222312656
PMCID:
PMC8657601
AbstractArticlePDF–4.6M
5.
Identification of Hub Gene GRIN1 Correlated with Histological Grade and Prognosis of Glioma by Weighted Gene Coexpression Network Analysis
Aoran Yang, Xinhuan Wang, Yaofeng Hu, Chao Shang, Yang Hong
Biomed Res Int. 2021; 2021: 4542995. Published online 2021 Nov 19. doi: 10.1155/2021/4542995
PMCID:
PMC8626183
AbstractArticlePDF–3.5M
6.
Advances in D-Amino Acids in Neurological Research
James M. Seckler, Stephen J. Lewis
Int J Mol Sci. 2020 Oct; 21(19): 7325. Published online 2020 Oct 3. doi: 10.3390/ijms21197325
PMCID:
PMC7582301
AbstractArticlePDF–580K
7.
N -Methyl-D-Aspartate Receptor Hypofunction in Meg-01 Cells Reveals a Role for Intracellular Calcium Homeostasis in Balancing Megakaryocytic-Erythroid Differentiation
James I. Hearn, Taryn N. Green, Martin Chopra, Yohanes N. S. Nursalim, Leandro Ladvanszky, Nicholas Knowlton, Cherie Blenkiron, Raewyn C. Poulsen, Dean C. Singleton, Stefan K. Bohlander, Maggie L. Kalev-Zylinska
Thromb Haemost. 2020 Apr; 120(4): 671–686. Published online 2020 Apr 14. doi: 10.1055/s-0040-1708483
PMCID:
PMC7286128
AbstractArticlePDF–938K
8.
Decreased Phosphorylation of NMDA Receptor Type 1 at Serine 897 in Brains of Patients with Schizophrenia
Effat S. Emamian, Maria Karayiorgou, Joseph A. Gogos
J Neurosci. 2004 Feb 18; 24(7): 1561–1564. doi: 10.1523/JNEUROSCI.4650-03.2004
PMCID:
PMC6730463
AbstractArticlePDF–208K
9.
Association between polymorphisms in the GRIN1 gene 5′ regulatory region and schizophrenia in a northern Han Chinese population and haplotype effects on protein expression in vitro
Yong-ping Liu, Mei Ding, Xi-cen Zhang, Yi Liu, Jin-feng Xuan, Jia-xin Xing, Xi Xia, Jun Yao, Bao-jie Wang
BMC Med Genet. 2019; 20: 26. Published online 2019 Jan 31. doi: 10.1186/s12881-019-0757-3
PMCID:
PMC6357472
AbstractArticlePDF–851K
10.
Intradomain interactions in an NMDA receptor fragment mediate N-glycan processing and conformational sampling
Ganesh P. Subedi, Anton V. Sinitskiy, Jacob T. Roberts, Kashyap R. Patel, Vijay S. Pande, Adam W. Barb
Structure. Author manuscript; available in PMC 2020 Jan 2.
Published in final edited form as: Structure. 2019 Jan 2; 27(1): 55–65.e3. Published online 2018 Oct 25. doi: 10.1016/j.str.2018.09.010
PMCID:
PMC6318028
AbstractArticlePDF–2.7M
11.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
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
Brain. 2018 Mar; 141(3): 698–712. Published online 2018 Jan 22. doi: 10.1093/brain/awx358
PMCID:
PMC5837214
AbstractArticlePDF–698K
12.
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy
Massimiliano Rossi, Nicolas Chatron, Audrey Labalme, Dorothée Ville, Maryline Carneiro, Patrick Edery, Vincent des Portes, Johannes R Lemke, Damien Sanlaville, Gaetan Lesca
Eur J Hum Genet. 2017 Mar; 25(3): 376–380. Published online 2017 Jan 4. doi: 10.1038/ejhg.2016.163
PMCID:
PMC5315503
AbstractArticlePDF–876K
13.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
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
Neurology. 2016 Jun 7; 86(23): 2171–2178. doi: 10.1212/WNL.0000000000002740
PMCID:
PMC4898312
AbstractArticlePDF–241K
14.
A peripheral neuroimmune link: glutamate agonists upregulate NMDA NR1 receptor mRNA and protein, vimentin, TNF-α, and RANTES in cultured human synoviocytes
Terry A. McNearney, Yinghong Ma, Yueping Chen, Giulio Taglialatela, Huaizhi Yin, Wen-Ru Zhang, Karin N. Westlund
Am J Physiol Regul Integr Comp Physiol. 2010 Mar; 298(3): R584–R598. Published online 2009 Dec 9. doi: 10.1152/ajpregu.00452.2009
PMCID:
PMC2838657
AbstractArticle
15.
Novel Environment and GABA Agonists Alter Event-Related Potentials in N-Methyl-d-aspartate NR1 Hypomorphic and Wild-Type Mice
Christina L. Bodarky, Tobias B. Halene, Richard S. Ehrlichman, Anamika Banerjee, Rabindranath Ray, Chang-Gyu Hahn, Gerald Jonak, Steven J. Siegel
J Pharmacol Exp Ther. 2009 Oct; 331(1): 308–318. doi: 10.1124/jpet.109.150938
PMCID:
PMC2766227
AbstractArticlePDF–1.1M
16.
Inducible expression of neuronal glutamate receptor channels in the NT2 human cell line.
D P Younkin, C M Tang, M Hardy, U R Reddy, Q Y Shi, S J Pleasure, V M Lee, D Pleasure
Proc Natl Acad Sci U S A. 1993 Mar 15; 90(6): 2174–2178. doi: 10.1073/pnas.90.6.2174
PMCID:
PMC46048
SummaryPage BrowsePDF–1.3M
17.
Evidence relating human verbal memory to hippocampal N-methyl-d-aspartate receptors
Thomas Grunwald, Heinz Beck, Klaus Lehnertz, Ingmar Blümcke, Nico Pezer, Martin Kurthen, Guillen Fernández, Dirk Van Roost, Hans J. Heinze, Marta Kutas, Christian E. Elger
Proc Natl Acad Sci U S A. 1999 Oct 12; 96(21): 12085–12089. doi: 10.1073/pnas.96.21.12085
PMCID:
PMC18416
AbstractArticlePDF–102K
18.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
J Med Genet. Author manuscript; available in PMC 2023 Nov 13.
Published in final edited form as: J Med Genet. 2023 Feb; 60(2): 183–192. Published online 2022 Apr 7. doi: 10.1136/jmedgenet-2021-107971
PMCID:
PMC10642159
AbstractArticlePDF–1.1M
19.
Changes in cortical N-methyl-d-aspartate receptors and post-synaptic density protein 95 in schizophrenia, mood disorders and suicide
Brian Dean, Andrew S Gibbons, Simone Boer, Akihito Uezato, James Meador-Woodruff, Elizabeth Scarr, Robert E McCullumsmith
Aust N Z J Psychiatry. Author manuscript; available in PMC 2020 Nov 23.
Published in final edited form as: Aust N Z J Psychiatry. 2016 Mar; 50(3): 275–283. Published online 2015 May 26. doi: 10.1177/0004867415586601
PMCID:
PMC7683009
AbstractArticlePDF–611K
20.
The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors
Kristyna Skrenkova, Jae-man Song, Stepan Kortus, Marharyta Kolcheva, Jakub Netolicky, Katarina Hemelikova, Martina Kaniakova, Barbora Hrcka Krausova, Tomas Kucera, Jan Korabecny, Young Ho Suh, Martin Horak
Sci Rep. 2020; 10: 18576. Published online 2020 Oct 29. doi: 10.1038/s41598-020-75646-w
PMCID:
PMC7596085
AbstractArticlePDF–2.6M

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