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Items: 1 to 20 of 165

1.
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
AbstractArticlePDF–4.7M
2.
DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples
Fenglong Jiao, Clinton Yu, Andrew Wheat, Lijun Chen, Tung-Shing Mamie Lih, Hui Zhang, Lan Huang
J Proteome Res. Author manuscript; available in PMC 2024 Aug 3.
Published in final edited form as: J Proteome Res. 2024 Aug 2; 23(8): 3269–3279. Published online 2024 Feb 9. doi: 10.1021/acs.jproteome.3c00832
PMCID:
PMC11296914
AbstractArticlePDF–1.7M
3.
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
AbstractArticlePDF–4.8M
4.
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
AbstractArticlePDF–8.6M
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
AbstractArticlePDF–8.8M
14.
USP7 controls NGN3 stability and pancreatic endocrine lineage development
Teodora Manea, Jessica Kristine Nelson, Cristina Maria Garrone, Karin Hansson, Ian Evans, Axel Behrens, Rocio Sancho
Nat Commun. 2023; 14: 2457. Published online 2023 Apr 28. doi: 10.1038/s41467-023-38146-9
PMCID:
PMC10147604
AbstractArticlePDF–9.0M
15.
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
AbstractArticlePDF–4.3M
16.
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
17.
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
18.
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
19.
Casein kinase 2 attenuates brain injury induced by intracerebral hemorrhage via regulation of NR2B phosphorylation
Zhimin Sun, Qiyao Li, Xiaopeng Li, Yunpeng Shi, Chengrui Nan, Qianxu Jin, Xiaoyan Wang, Yayu Zhuo, Zongmao Zhao
Front Cell Neurosci. 2022; 16: 911973. Published online 2022 Jul 19. doi: 10.3389/fncel.2022.911973
PMCID:
PMC9345180
AbstractArticlePDF–12M
20.
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

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