Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology. | Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology. Korinek M, Candelas Serra M, Abdel Rahman F, Dobrovolski M, Kuchtiak V, Abramova V, Fili K, Tomovic E, Hrcka Krausova B, Krusek J, Cerny J, Vyklicky L, Balik A, Smejkalova T., Free PMC Article | 09/9/2024 |
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. | De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF., Free PMC Article | 08/1/2024 |
Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. | Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. Raïch I, Lillo J, Rebassa JB, Capó T, Cordomí A, Reyes-Resina I, Pallàs M, Navarro G., Free PMC Article | 06/7/2024 |
Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids. | Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids. Kysilov B, Kuchtiak V, Hrcka Krausova B, Balik A, Korinek M, Fili K, Dobrovolski M, Abramova V, Chodounska H, Kudova E, Bozikova P, Cerny J, Smejkalova T, Vyklicky L., Free PMC Article | 02/6/2024 |
Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran. | Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran. Pouyan Mehr D, Faraji N, Rezaei S, Keshavarz P. | 02/1/2024 |
Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children. | Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children. Zhong L, He H, Zhang J, Gao X, Yin F, Zuo P, Song R., Free PMC Article | 01/17/2024 |
The GluN2B-Containing NMDA Receptor Alleviates Neuronal Apoptosis in Neonatal Hypoxic-Ischemic Encephalopathy by Activating PI3K-Akt-CREB Signaling Pathwa. | The GluN2B-Containing NMDA Receptor Alleviates Neuronal Apoptosis in Neonatal Hypoxic-Ischemic Encephalopathy by Activating PI3K-Akt-CREB Signaling Pathwa. Zhang X, Peng KZ, Xu SL, Wu MX, Sun HJ, Zhao J, Yang S, Liu SJ, Lia CY, Zhang XM., Free PMC Article | 12/1/2023 |
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. | Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. Myers SJ, Yuan H, Perszyk RE, Zhang J, Kim S, Nocilla KA, Allen JP, Bain JM, Lemke JR, Lal D, Benke TA, Traynelis SF., Free PMC Article | 10/26/2023 |
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. | Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA, Muñoz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA, Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ, Traynelis SF., Free PMC Article | 08/10/2023 |
Correlations between GRIN2B and GRIN3A gene polymorphisms and postpartum depressive symptoms in Chinese parturients undergoing cesarean section: A prospective cohort study. | Correlations between GRIN2B and GRIN3A gene polymorphisms and postpartum depressive symptoms in Chinese parturients undergoing cesarean section: A prospective cohort study. Ping A, Yang M, Xu S, Li Q, Feng Y, Gao K, Wang S, Duan K. | 04/19/2023 |
GRIN2B gene expression is increased in the anterior cingulate cortex in major depression. | GRIN2B gene expression is increased in the anterior cingulate cortex in major depression. Brown SJ, Brown AM, Purves-Tyson TD, Huang XF, Shannon Weickert C, Newell KA. | 03/16/2023 |
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. | Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N., Free PMC Article | 01/28/2023 |
NMDA Receptor GluN2B Subunit Is Involved in Excitotoxicity Mediated by Death-Associated Protein Kinase 1 in Alzheimer's Disease. | NMDA Receptor GluN2B Subunit Is Involved in Excitotoxicity Mediated by Death-Associated Protein Kinase 1 in Alzheimer's Disease. Xu LZ, Li BQ, Li FY, Li Y, Qin W, Zhao Y, Jia JP. | 01/28/2023 |
Carnosic Acid Attenuates AbetaOs-Induced Apoptosis and Synaptic Impairment via Regulating NMDAR2B and Its Downstream Cascades in SH-SY5Y Cells. | Carnosic Acid Attenuates AβOs-Induced Apoptosis and Synaptic Impairment via Regulating NMDAR2B and Its Downstream Cascades in SH-SY5Y Cells. Liu WY, Li Y, Li Y, Xu LZ, Jia JP. | 12/31/2022 |
Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders. | Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders. Shah AA, Amjad M, Hassan JU, Ullah A, Mahmood A, Deng H, Ali Y, Gul F, Xia K., Free PMC Article | 08/6/2022 |
Inhibition of CK2 mitigates Alzheimer's tau pathology by preventing NR2B synaptic mislocalization. | Inhibition of CK2 mitigates Alzheimer's tau pathology by preventing NR2B synaptic mislocalization. Marshall CA, McBride JD, Changolkar L, Riddle DM, Trojanowski JQ, Lee VM., Free PMC Article | 05/21/2022 |
N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. | N-methyl-d-aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. Charron JG, Hernandez A, Bilinovich SM, Vogt DL, Bedinger LA, Seaver LH, Williams M, Devries S, Campbell DB, Bupp CP, Prokop JW., Free PMC Article | 04/16/2022 |
Association between NMDA gene polymorphism (rs4880213) and GRIN2B blood serum levels in thyroid pathology patients. | Association between NMDA gene polymorphism (rs4880213) and GRIN2B blood serum levels in thyroid pathology patients. Kamyshna II, Pavlovych LB, Kamyshnyi AM., Free PMC Article | 02/26/2022 |
Treatment response to low-dose ketamine infusion for treatment-resistant depression: A gene-based genome-wide association study. | Treatment response to low-dose ketamine infusion for treatment-resistant depression: A gene-based genome-wide association study. Chen MH, Kao CF, Tsai SJ, Li CT, Lin WC, Hong CJ, Bai YM, Tu PC, Su TP. | 02/26/2022 |
Brain Anatomical Mediators of GRIN2B Gene Association with Attention/Hyperactivity Problems: An Integrated Genetic-Neuroimaging Study. | Brain Anatomical Mediators of GRIN2B Gene Association with Attention/Hyperactivity Problems: An Integrated Genetic-Neuroimaging Study. Nobile M, Maggioni E, Mauri M, Garzitto M, Piccin S, Bonivento C, Giorda R, Girometti R, Tomasino B, Molteni M, Fabbro F, Brambilla P., Free PMC Article | 02/12/2022 |
Amyloid-beta (1-42) peptide induces rapid NMDA receptor-dependent alterations at glutamatergic synapses in the entorhinal cortex. | Amyloid-β (1-42) peptide induces rapid NMDA receptor-dependent alterations at glutamatergic synapses in the entorhinal cortex. Olajide OJ, Chapman CA. | 12/25/2021 |
N-Methyl-d-aspartic Acid (NMDA) Receptor Is Involved in the Inhibitory Effect of Ketamine on Human Sperm Functions. | N-Methyl-d-aspartic Acid (NMDA) Receptor Is Involved in the Inhibitory Effect of Ketamine on Human Sperm Functions. Chen Y, Xu W, Yuan Y, Chen H, Zheng S, He Y, Luo T., Free PMC Article | 12/18/2021 |
Age-Dependent Changes in Synaptic NMDA Receptor Composition in Adult Human Cortical Neurons. | Age-Dependent Changes in Synaptic NMDA Receptor Composition in Adult Human Cortical Neurons. Pegasiou CM, Zolnourian A, Gomez-Nicola D, Deinhardt K, Nicoll JAR, Ahmed AI, Vajramani G, Grundy P, Verhoog MB, Mansvelder HD, Perry VH, Bulters D, Vargas-Caballero M. | 12/18/2021 |
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function. | Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function. Santos-Gómez A, Miguez-Cabello F, García-Recio A, Locubiche-Serra S, García-Díaz R, Soto-Insuga V, Guerrero-López R, Juliá-Palacios N, Ciruela F, García-Cazorla À, Soto D, Olivella M, Altafaj X. | 11/22/2021 |
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy. | Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy. Kellner S, Abbasi A, Carmi I, Heinrich R, Garin-Shkolnik T, Hershkovitz T, Giladi M, Haitin Y, Johannesen KM, Steensbjerre Møller R, Berlin S., Free PMC Article | 10/9/2021 |