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Select item 110844231.

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 109730912.

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 107917143.

Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children

Lin Zhong, Hongyao He, Jing Zhang, Xiaoyan Gao, Feifei Yin, Pengxiang Zuo, Ranran Song

Mol Neurobiol. 2024; 61(1): 42–54. Published online 2023 Aug 14. doi: 10.1007/s12035-023-03523-4

PMCID:: PMC10791714

Abstract Article PDF–705K

Select item 107869874.

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 107510475.

The GluN2B-Containing NMDA Receptor Alleviates Neuronal Apoptosis in Neonatal Hypoxic-Ischemic Encephalopathy by Activating PI3K-Akt-CREB Signaling Pathway

Xiao-Tong ZHANG, Kai-Zhen PENG, Shi-Lian XU, Meng-Xue WU, Hong-Ji SUN, Jian ZHAO, Shuang YANG, Shou-Jiang LIU, Chen-Yu LIAO, Xiao-Min ZHANG

Physiol Res. 2023 Oct; 72(5): 669–680. Published online 2023 Oct 31. doi: 10.33549/physiolres.935044

PMCID:: PMC10751047

Abstract Article PDF–2.3M

Select item 106421596.

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

Abstract Article PDF–1.1M

Select item 106417597.

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 105080398.

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Scott J Myers, Hongjie Yuan, Riley E Perszyk, Jing Zhang, Sukhan Kim, Kelsey A Nocilla, James P Allen, Jennifer M Bain, Johannes R Lemke, Dennis Lal, Timothy A Benke, Stephen F Traynelis

Hum Mol Genet. 2023 Oct 1; 32(19): 2857–2871. Published online 2023 Jun 27. doi: 10.1093/hmg/ddad104

PMCID:: PMC10508039

Abstract Article PDF–1.2M

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 1041608910.

Common Genetic Variation and Antidepressant Efficacy in Major Depressive Disorder: A Meta-Analysis of Three Genome-Wide Pharmacogenetic Studies

GENDEP Investigators, Rudolf Uher, Katherine E. Tansey, Marcella Rietschel, Neven Henigsberg, Wolfgang Maier, Ole Mors, Joanna Hauser, Anna Placentino, Daniel Souery, Anne Farmer, Katherine J. Aitchison, Ian Craig, Peter McGuffin, Cathryn M. Lewis, MARS Investigators, Marcus Ising, Susanne Lucae, Elisabeth B. Binder, Stefan Kloiber, Florian Holsboer, Bertram Müller-Myhsok, STAR*D Investigators, Stephan Ripke, Steven P. Hamilton, Jared Soundy, Gonzalo Laje, Francis J. McMahon, Maurizio Fava, A. John Rush, Roy H. Perlis

Am J Psychiatry. Author manuscript; available in PMC 2023 Aug 11.

Published in final edited form as: Am J Psychiatry. 2013 Feb; 170(2): 207–217. doi: 10.1176/appi.ajp.2012.12020237

PMCID:: PMC10416089

Abstract Article PDF–1.4M

Select item 949678011.

MET Oncogene Controls Invasive Growth by Coupling with NMDA Receptor

Simona Gallo, Annapia Vitacolonna, Paolo Comoglio, Tiziana Crepaldi

Cancers (Basel) 2022 Sep; 14(18): 4408. Published online 2022 Sep 11. doi: 10.3390/cancers14184408

PMCID:: PMC9496780

Abstract Article PDF–4.3M

Select item 939429012.

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders

Abid Ali Shah, Marryam Amjad, Jawad-Ul Hassan, Asmat Ullah, Arif Mahmood, Huiyin Deng, Yasir Ali, Fouzia Gul, Kun Xia

Genes (Basel) 2022 Aug; 13(8): 1332. Published online 2022 Jul 26. doi: 10.3390/genes13081332

PMCID:: PMC9394290

Abstract Article PDF–6.6M

Select item 935283413.

KIF17 Modulates Epileptic Seizures and Membrane Expression of the NMDA Receptor Subunit NR2B

Yan Liu, Xin Tian, Pingyang Ke, Juan Gu, Yuanlin Ma, Yi Guo, Xin Xu, Yuanyuan Chen, Min Yang, Xuefeng Wang, Fei Xiao

Neurosci Bull. 2022 Aug; 38(8): 841–856. Published online 2022 Jun 9. doi: 10.1007/s12264-022-00888-9

PMCID:: PMC9352834

Abstract Article PDF–2.4M

Select item 934857614.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 889591915.

Inhibition of CK2 mitigates Alzheimer’s tau pathology by preventing NR2B synaptic mislocalization

Courtney A. Marshall, Jennifer D. McBride, Lakshmi Changolkar, Dawn M. Riddle, John Q. Trojanowski, Virginia M.-Y. Lee

Acta Neuropathol Commun. 2022; 10: 30. Published online 2022 Mar 4. doi: 10.1186/s40478-022-01331-w

PMCID:: PMC8895919

Abstract Article PDF–2.4M

Select item 885264616.

Association between NMDA gene polymorphism (rs4880213) and GRIN2B blood serum levels in thyroid pathology patients

Iryna Ivanivna Kamyshna, Larysa Borysivna Pavlovych, Aleksandr Mychailovich Kamyshnyi

J Med Life. 2022 Jan; 15(1): 109–116. doi: 10.25122/jml-2021-0372

PMCID:: PMC8852646

Abstract Article PDF–578K

Select item 862201817.

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 855097818.

Hippocampal Lnx1–NMDAR multiprotein complex mediates initial social memory

Xian-Dong Liu, Peng-Hui Ai, Xiao-Na Zhu, Yuan-Bo Pan, Michael M. Halford, Mark Henkemeyer, Dong-Fu Feng, Tian-Le Xu, Suya Sun, Nan-Jie Xu

Mol Psychiatry. 2021; 26(8): 3956–3969. Published online 2019 Nov 26. doi: 10.1038/s41380-019-0606-y

PMCID:: PMC8550978

Abstract Article PDF–4.7M

Select item 839430819.

Brain Anatomical Mediators of GRIN2B Gene Association with Attention/Hyperactivity Problems: An Integrated Genetic-Neuroimaging Study

Maria Nobile, Eleonora Maggioni, Maddalena Mauri, Marco Garzitto, Sara Piccin, Carolina Bonivento, Roberto Giorda, Rossano Girometti, Barbara Tomasino, Massimo Molteni, Franco Fabbro, Paolo Brambilla

Genes (Basel) 2021 Aug; 12(8): 1193. Published online 2021 Jul 30. doi: 10.3390/genes12081193

PMCID:: PMC8394308

Abstract Article PDF–920K

Select item 835396220.

Tau Knockout Exacerbates Degeneration of Parvalbumin-Positive Neurons in Substantia Nigra Pars Reticulata in Parkinson’s Disease-Related α-Synuclein A53T Mice

Luyan Jiao, Meige Zheng, Jinhai Duan, Ting Wu, Zhao Li, Lin Liu, Xianhong Xiang, Xiaolu Tang, Jinyang He, Xingjian Li, Guofeng Zhang, Jinhui Ding, Huaibin Cai, Xian Lin

FASEB J. Author manuscript; available in PMC 2021 Aug 10.

Published in final edited form as: FASEB J. 2020 Sep; 34(9): 12239–12254. Published online 2020 Jul 30. doi: 10.1096/fj.202000017RR

PMCID:: PMC8353962

Abstract Article PDF–3.0M

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