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 |
METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2. | METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2. Lu W, Yang X, Zhong W, Chen G, Guo X, Ye Q, Xu Y, Qi Z, Ye Y, Zhang J, Wang Y, Wang X, Wang S, Zhao Q, Zeng W, Huang J, Ma H, Xie J., Free PMC Article | 03/19/2024 |
Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. | Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders. Shepard N, Baez-Nieto D, Iqbal S, Kurganov E, Budnik N, Campbell AJ, Pan JQ, Sheng M, Farsi Z., Free PMC Article | 02/7/2024 |
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 |
GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia. | GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia. Harrison PJ, Bannerman DM., Free PMC Article | 12/23/2023 |
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 |
Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. | Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA., Free PMC Article | 05/5/2023 |
GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics. | GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics. Samanta D. | 01/28/2023 |
Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs. | Structural insights into assembly and function of GluN1-2C, GluN1-2A-2C, and GluN1-2D NMDARs. Chou TH, Kang H, Simorowski N, Traynelis SF, Furukawa H., Free PMC Article | 12/10/2022 |
SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities. | SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities. Zhang Y, Wu J, Yan Y, Gu Y, Ma Y, Wang M, Zhang H, Tao K, Lü Y, Yu W, Jing W, Wang X, Tian X., Free PMC Article | 05/14/2022 |
Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A. | Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A. Elmasri M, Hunter DW, Winchester G, Bates EE, Aziz W, Van Der Does DM, Karachaliou E, Sakimura K, Penn AC., Free PMC Article | 04/16/2022 |
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 |
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 |
Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants. | Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants. Tascón-Arcila J, Rojas-Jiménez S, Cornejo-Sánchez D, Gómez-Builes P, Ucroz-Benavides A, Holguín BM, Restrepo-Arbeláez D, Gómez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N. | 02/26/2022 |
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 |
Correlated conformational dynamics of the human GluN1-GluN2A type N-methyl-D-aspartate (NMDA) receptor. | Correlated conformational dynamics of the human GluN1-GluN2A type N-methyl-D-aspartate (NMDA) receptor. Essiz S, Gencel M, Aktolun M, Demir A, Carpenter TS, Servili B. | 12/11/2021 |
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 |
Association between (GT)n Promoter Polymorphism and Recovery from Concussion: A Pilot Study. | Association between (GT)n Promoter Polymorphism and Recovery from Concussion: A Pilot Study. McDevitt J, Rubin LH, De Simone FI, Phillips J, Langford D. | 10/9/2021 |
Effects of GluN2A and GluN2B gain-of-function epilepsy mutations on synaptic currents mediated by diheteromeric and triheteromeric NMDA receptors. | Effects of GluN2A and GluN2B gain-of-function epilepsy mutations on synaptic currents mediated by diheteromeric and triheteromeric NMDA receptors. Chen X, Keramidas A, Harvey RJ, Lynch JW. | 09/18/2021 |
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. | 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. Krzystanek M, Asman M, Witecka J, Pałasz A, Wiaderkiewicz R., Free PMC Article | 09/11/2021 |
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. | 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. Krzystanek M, Asman M, Witecka J, Pałasz A, Wiaderkiewicz R., Free PMC Article | 09/11/2021 |
Structural basis of ketamine action on human NMDA receptors. | Structural basis of ketamine action on human NMDA receptors. Zhang Y, Ye F, Zhang T, Lv S, Zhou L, Du D, Lin H, Guo F, Luo C, Zhu S. | 08/28/2021 |