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Items: 1 to 20 of 114

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.
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
3.
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening
Lingling Xie, Miranda J. McDaniel, Riley E. Perszyk, Sukhan Kim, Gerarda Cappuccio, Kevin A. Shapiro, Beatriz Muñoz-Cabello, Pedro A. Sanchez-Lara, Katheryn Grand, Jing Zhang, Kelsey A. Nocilla, Rehan Sheikh, Lluis Armengol, Roberta Romano, Tyler Mark Pierson, Hongjie Yuan, Scott J. Myers, Stephen F. Traynelis
Cell Mol Life Sci. 2023 Apr; 80(4): 110. Published online 2023 Mar 31. doi: 10.1007/s00018-023-04705-y
PMCID:
PMC10641759
AbstractArticlePDF–5.3M
4.
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
5.
NMDA receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants.
Jacob G Charron, Angel Hernandez, Stephanie M Bilinovich, Daniel L Vogt, Laura A Bedinger, Laurie H Seaver, Michael Williams, Seth Devries, Daniel B Campbell, Caleb P Bupp, Jeremy W Prokop
Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.
Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 556–568. Published online 2021 Nov 2. doi: 10.1002/ajmg.a.62554
PMCID:
PMC10472328
AbstractArticlePDF–2.0M
6.
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
7.
Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs
Tsung-Han Chou, Hyunook Kang, Noriko Simorowski, Stephen F. Traynelis, Hiro Furukawa
Mol Cell. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Mol Cell. 2022 Dec 1; 82(23): 4548–4563.e4. Published online 2022 Oct 28. doi: 10.1016/j.molcel.2022.10.008
PMCID:
PMC9722627
AbstractArticlePDF–3.3M
8.
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
9.
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
10.
Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy
Yuchen Xu, Rui Song, Wenjuan Chen, Katie Strong, Daniel Shrey, Satyanarayana Gedela, Stephen F. Traynelis, Guojun Zhang, Hongjie Yuan
Ann Clin Transl Neurol. 2021 Jul; 8(7): 1480–1494. Published online 2021 Jul 6. doi: 10.1002/acn3.51406
PMCID:
PMC8283169
AbstractArticlePDF–5.1M
11.
Splicing and editing of ionotropic glutamate receptors: a comprehensive analysis based on human RNA-Seq data
Robin Herbrechter, Nadine Hube, Raoul Buchholz, Andreas Reiner
Cell Mol Life Sci. 2021 Jul; 78(14): 5605–5630. Published online 2021 Jun 8. doi: 10.1007/s00018-021-03865-z
PMCID:
PMC8257547
AbstractArticlePDF–2.4M
12.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
13.
Exploratory study of selected nucleotide variants in GRIN1, GRIN2A and GRIN2B encoding subunits of the NMDA receptor in a targeted group of schizophrenia patients with chronic cognitive impairment
Marek Krzystanek, Marek Asman, Joanna Witecka, Artur Pałasz, Ryszard Wiaderkiewicz
Pharmacol Rep. 2021; 73(1): 269–277. Published online 2020 Nov 25. doi: 10.1007/s43440-020-00192-1
PMCID:
PMC7862516
AbstractArticlePDF–2.0M
14.
Selected single-nucleotide variants in GRIN1, GRIN2A, and GRIN2B encoding subunits of the NMDA receptor are not biomarkers of schizophrenia resistant to clozapine: exploratory study
Marek Krzystanek, Marek Asman, Joanna Witecka, Artur Pałasz, Ryszard Wiaderkiewicz
Pharmacol Rep. 2021; 73(1): 309–315. Published online 2020 Oct 6. doi: 10.1007/s43440-020-00165-4
PMCID:
PMC7862503
AbstractArticlePDF–678K
15.
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
16.
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
17.
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
18.
mGluR5 hypofunction is integral to glutamatergic dysregulation in schizophrenia
Hoau-Yan Wang, Mathew L. MacDonald, Karin E. Borgmann-Winter, Anamika Banerjee, Patrick Sleiman, Andrew Tom, Amber Khan, Kuo-Chieh Lee, Panos Roussos, Steven J. Siegel, Scott E Hemby, Warren B. Bilker, Raquel E. Gur, Chang-Gyu Hahn
Mol Psychiatry. Author manuscript; available in PMC 2020 Sep 18.
Published in final edited form as: Mol Psychiatry. 2020 Apr; 25(4): 750–760. Published online 2018 Sep 13. doi: 10.1038/s41380-018-0234-y
PMCID:
PMC7500805
AbstractArticlePDF–1.2M
19.
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
20.
De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases
Jia Li, Jin Zhang, Weiting Tang, Ruth K. Mizu, Hirofumi Kusumoto, Wenshu XiangWei, Yuchen Xu, Wenjuan Chen, Johansen B. Amin, Eduardo Perozo, Chun Hu, Varun Kannan, Stephanie R. Keller, William R. Wilcox, Johannes R. Lemke, Scott J. Myers, Sharon A. Swanger, Lonnie P. Wollmuth, Slavé Petrovski, Stephen F. Traynelis, Hongjie Yuan
Hum Mutat. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Hum Mutat. 2019 Dec; 40(12): 2393–2413. Published online 2019 Sep 10. doi: 10.1002/humu.23895
PMCID:
PMC6874887
AbstractArticlePDF–1.5M

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