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Items: 1 to 20 of 151

1.
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
AbstractArticlePDF–705K
2.
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
AbstractArticlePDF–4.8M
3.
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
AbstractArticlePDF–2.3M
4.
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
5.
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
6.
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
AbstractArticlePDF–1.2M
7.
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
8.
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
AbstractArticlePDF–1.4M
9.
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
AbstractArticlePDF–6.6M
10.
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
AbstractArticlePDF–2.4M
11.
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
AbstractArticlePDF–3.0M
12.
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
AbstractArticlePDF–2.4M
13.
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
AbstractArticlePDF–578K
14.
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
AbstractArticlePDF–2.7M
15.
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
AbstractArticlePDF–920K
16.
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
AbstractArticlePDF–3.0M
17.
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
18.
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy
Shai Kellner, Abeer Abbasi, Ido Carmi, Ronit Heinrich, Tali Garin-Shkolnik, Tova Hershkovitz, Moshe Giladi, Yoni Haitin, Katrine M Johannesen, Rikke Steensbjerre Møller, Shai Berlin
eLife. 2021; 10: e67555. Published online 2021 Jul 2. doi: 10.7554/eLife.67555
PMCID:
PMC8260228
AbstractArticlePDF–1.8M
19.
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
20.
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

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