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Select item 114123571.

Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology

Miloslav KORINEK, Miriam CANDELAS SERRA, Fatma Elzahraa S. ABDEL RAHMAN, Mark DOBROVOLSKI, Viktor KUCHTIAK, Vera ABRAMOVA, Klevinda FILI, Eni TOMOVIC, Barbora HRCKA KRAUSOVA, Jan KRUSEK, Jiri CERNY, Ladislav VYKLICKY, Ales BALIK, Tereza SMEJKALOVA

Physiol Res. 2024 Aug; 73(Suppl 1): S413–S434. Published online 2024 Aug 30. doi: 10.33549/physiolres.935346

PMCID:: PMC11412357

Abstract Article PDF–4.7M

Select item 110844232.

Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer’s Disease

Iu Raïch, Jaume Lillo, Joan Biel Rebassa, Toni Capó, Arnau Cordomí, Irene Reyes-Resina, Mercè Pallàs, Gemma Navarro

Int J Mol Sci. 2024 May; 25(9): 4757. Published online 2024 Apr 26. doi: 10.3390/ijms25094757

PMCID:: PMC11084423

Abstract Article PDF–4.8M

Select item 109730913.

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

Yuchen Xu, Rui Song, Riley E. Perszyk, Wenjuan Chen, Sukhan Kim, Kristen L. Park, James P. Allen, Kelsey A. Nocilla, Jing Zhang, Wenshu XiangWei, Anel Tankovic, Ellington D. McDaniels, Rehan Sheikh, Ruth K. Mizu, Manish M. Karamchandani, Chun Hu, Hirofumi Kusumoto, Joseph Pecha, Gerarda Cappuccio, John Gaitanis, Jennifer Sullivan, Vandana Shashi, Slave Petrovski, Robin-Tobias Jauss, Hyun Kyung Lee, Xiuhua Bozarth, David R. Lynch, Ingo Helbig, Tyler Mark Pierson, Cornelius F. Boerkoel, Scott J. Myers, Johannes R. Lemke, Timothy A. Benke, Hongjie Yuan, Stephen F. Traynelis

Cell Mol Life Sci. 2024 Dec; 81(1): 153. Published online 2024 Mar 28. doi: 10.1007/s00018-023-05069-z

PMCID:: PMC10973091

Abstract Article PDF–8.6M

Select item 109400924.

METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2

Weicheng Lu, Xiaohua Yang, Weiqiang Zhong, Guojun Chen, Xinqi Guo, Qingqing Ye, Yixin Xu, Zhenhua Qi, Yaqi Ye, Jingyun Zhang, Yuge Wang, Xintong Wang, Shu Wang, Qiyue Zhao, Weian Zeng, Junting Huang, Huijie Ma, Jingdun Xie

J Clin Invest. 2024 Mar 15; 134(6): e174847. Published online 2024 Feb 6. doi: 10.1172/JCI174847

PMCID:: PMC10940092

Abstract Article PDF–13M

Select item 108374275.

Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders

Nate Shepard, David Baez-Nieto, Sumaiya Iqbal, Erkin Kurganov, Nikita Budnik, Arthur J. Campbell, Jen Q. Pan, Morgan Sheng, Zohreh Farsi

Sci Rep. 2024; 14: 2798. Published online 2024 Feb 2. doi: 10.1038/s41598-024-53102-3

PMCID:: PMC10837427

Abstract Article PDF–4.3M

Select item 107869876.

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

Bohdan Kysilov, Viktor Kuchtiak, Barbora Hrcka Krausova, Ales Balik, Miloslav Korinek, Klevinda Fili, Mark Dobrovolski, Vera Abramova, Hana Chodounska, Eva Kudova, Paulina Bozikova, Jiri Cerny, Tereza Smejkalova, Ladislav Vyklicky

Cell Mol Life Sci. 2024 Dec; 81(1): 36. Published online 2024 Jan 12. doi: 10.1007/s00018-023-05062-6

PMCID:: PMC10786987

Abstract Article PDF–4.8M

Select item 107304187.

GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia

Paul J. Harrison, David M. Bannerman

Mol Psychiatry. 2023; 28(9): 3568–3572. Published online 2023 Sep 22. doi: 10.1038/s41380-023-02265-y

PMCID:: PMC10730418

Abstract Article PDF–541K

Select item 106417598.

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

Abstract Article PDF–5.3M

Select item 104723289.

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

Abstract Article PDF–2.0M

Select item 1030785210.

KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility

Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao

Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5

PMCID:: PMC10307852

Abstract Article PDF–8.8M

Select item 1013804011.

Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants

Margaret A. Hojlo, Merhawi Ghebrelul, Casie A. Genetti, Richard Smith, Shira Rockowitz, Emma Deaso, Alan H. Beggs, Pankaj B. Agrawal, David C. Glahn, Joseph Gonzalez-Heydrich, Catherine A. Brownstein

Genes (Basel) 2023 Apr; 14(4): 779. Published online 2023 Mar 23. doi: 10.3390/genes14040779

PMCID:: PMC10138040

Abstract Article PDF–279K

Select item 972262712.

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

Abstract Article PDF–3.3M

Select item 907240713.

SAPAP3 regulates epileptic seizures involving GluN2A in post-synaptic densities

Yanke Zhang, Junhong Wu, Yin Yan, Yixue Gu, Yuanlin Ma, Min Wang, Hui Zhang, Kaiyan Tao, Yang Lü, Weihua Yu, Wei Jing, Xuefeng Wang, Xin Tian

Cell Death Dis. 2022 May; 13(5): 437. Published online 2022 May 5. doi: 10.1038/s41419-022-04876-9

PMCID:: PMC9072407

Abstract Article PDF–5.1M

Select item 888569714.

Common synaptic phenotypes arising from diverse mutations in the human NMDA receptor subunit GluN2A

Marwa Elmasri, Daniel William Hunter, Giles Winchester, Ella Emine Bates, Wajeeha Aziz, Does Moolenaar Van Der Does, Eirini Karachaliou, Kenji Sakimura, Andrew. Charles Penn

Commun Biol. 2022; 5: 174. Published online 2022 Feb 28. doi: 10.1038/s42003-022-03115-3

PMCID:: PMC8885697

Abstract Article PDF–5.1M

Select item 862201815.

N-Methyl-d-aspartic Acid (NMDA) Receptor Is Involved in the Inhibitory Effect of Ketamine on Human Sperm Functions

Ying Chen, Wenqing Xu, Yuan Yuan, Houyang Chen, Shuangyan Zheng, Yuanqiao He, Tao Luo

Int J Mol Sci. 2021 Nov; 22(22): 12370. Published online 2021 Nov 16. doi: 10.3390/ijms222212370

PMCID:: PMC8622018

Abstract Article PDF–2.7M

Select item 828316916.

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

Abstract Article PDF–5.1M

Select item 816503017.

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

Abstract Article PDF–2.2M

Select item 811358018.

Conformational rearrangement of the NMDA receptor amino-terminal domain during activation and allosteric modulation

Vojtech Vyklicky, Cherise Stanley, Chris Habrian, Ehud Y. Isacoff

Nat Commun. 2021; 12: 2694. Published online 2021 May 11. doi: 10.1038/s41467-021-23024-z

PMCID:: PMC8113580

Abstract Article PDF–1.2M

Select item 786390919.

Leptin modulates pancreatic β-cell membrane potential through Src kinase–mediated phosphorylation of NMDA receptors

Veronica A. Cochrane, Yi Wu, Zhongying Yang, Assmaa ElSheikh, Jeremy Dunford, Paul Kievit, Dale A. Fortin, Show-Ling Shyng

J Biol Chem. 2020 Dec 11; 295(50): 17281–17297. Published online 2020 Oct 9. doi: 10.1074/jbc.RA120.015489

PMCID:: PMC7863909

Abstract Article PDF–2.2M

Select item 786251620.

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

Abstract Article PDF–2.0M

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