PMC Links for GEO Profiles (Select 99397490) - PMC

Links from GEO Profiles

Items: 1 to 20 of 122

<< First< Prev

Page of 7

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 110062172.

Structure and function of GluN1-3A NMDA receptor excitatory glycine receptor channel

Kevin Michalski, Hiro Furukawa

Sci Adv. 2024 Apr 12; 10(15): eadl5952. Published online 2024 Apr 10. doi: 10.1126/sciadv.adl5952

PMCID:: PMC11006217

Abstract Article PDF–9.6M

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 109525974.

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

Lotten Ragnarsson, Zihan Zhang, Sooraj S. Das, Poanna Tran, Åsa Andersson, Vincent des Portes, Cecilia Desmettre Altuzarra, Ganaelle Remerand, Audrey Labalme, Nicolas Chatron, Damien Sanlaville, Gaetan Lesca, Victor Anggono, Irina Vetter, Angelo Keramidas

Epilepsia. 2023 Dec; 64(12): 3377–3388. Published online 2023 Oct 17. doi: 10.1111/epi.17776

PMCID:: PMC10952597

Abstract Article PDF–6.1M

Select item 106421595.

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 106417596.

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 104881967.

Pluripotential GluN1 (NMDA NR1): Functional Significance in Cellular Nuclei in Pain/Nociception

Terry A. McNearney, Karin N. Westlund

Int J Mol Sci. 2023 Sep; 24(17): 13196. Published online 2023 Aug 25. doi: 10.3390/ijms241713196

PMCID:: PMC10488196

Abstract Article PDF–4.6M

Select item 104723288.

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 103078529.

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 974520910.

NMDA receptor modulation and severe acute respiratory syndrome treatment

Blaise M. Costa

Version 1. F1000Res. 2021; 10: Chem Inf Sci-1060. Published online 2021 Oct 18. doi: 10.12688/f1000research.73897.1

PMCID:: PMC9745209

Abstract Article PDF–256K

Select item 972262711.

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 865760112.

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

Ana Santos-Gómez, Federico Miguez-Cabello, Natalia Juliá-Palacios, Deyanira García-Navas, Víctor Soto-Insuga, Juan J. García-Peñas, Patricia Fuentes, Salvador Ibáñez-Micó, Laura Cuesta, Ramón Cancho, Patricia Andreo-Lillo, Gema Gutiérrez-Aguilar, Olga Alonso-Luengo, Ignacio Málaga, Antonio Hedrera-Fernández, Àngels García-Cazorla, David Soto, Mireia Olivella, Xavier Altafaj

Int J Mol Sci. 2021 Dec; 22(23): 12656. Published online 2021 Nov 23. doi: 10.3390/ijms222312656

PMCID:: PMC8657601

Abstract Article PDF–4.6M

Select item 862618313.

Identification of Hub Gene GRIN1 Correlated with Histological Grade and Prognosis of Glioma by Weighted Gene Coexpression Network Analysis

Aoran Yang, Xinhuan Wang, Yaofeng Hu, Chao Shang, Yang Hong

Biomed Res Int. 2021; 2021: 4542995. Published online 2021 Nov 19. doi: 10.1155/2021/4542995

PMCID:: PMC8626183

Abstract Article PDF–3.5M

Select item 828316914.

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 825754715.

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

Abstract Article PDF–2.4M

Select item 816503016.

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 786251617.

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

Select item 786250318.

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

Marek Krzystanek, Marek Asman, Joanna Witecka, Artur Pałasz, Ryszard Wiaderkiewicz

Pharmacol Rep. 2021; 73(1): 309–315. Published online 2020 Oct 6. doi: 10.1007/s43440-020-00165-4

PMCID:: PMC7862503

Abstract Article PDF–678K

Select item 768300919.

Changes in cortical N-methyl-d-aspartate receptors and post-synaptic density protein 95 in schizophrenia, mood disorders and suicide

Brian Dean, Andrew S Gibbons, Simone Boer, Akihito Uezato, James Meador-Woodruff, Elizabeth Scarr, Robert E McCullumsmith

Aust N Z J Psychiatry. Author manuscript; available in PMC 2020 Nov 23.

Published in final edited form as: Aust N Z J Psychiatry. 2016 Mar; 50(3): 275–283. Published online 2015 May 26. doi: 10.1177/0004867415586601

PMCID:: PMC7683009

Abstract Article PDF–611K

Select item 759608520.

The pathogenic S688Y mutation in the ligand-binding domain of the GluN1 subunit regulates the properties of NMDA receptors

Kristyna Skrenkova, Jae-man Song, Stepan Kortus, Marharyta Kolcheva, Jakub Netolicky, Katarina Hemelikova, Martina Kaniakova, Barbora Hrcka Krausova, Tomas Kucera, Jan Korabecny, Young Ho Suh, Martin Horak

Sci Rep. 2020; 10: 18576. Published online 2020 Oct 29. doi: 10.1038/s41598-020-75646-w

PMCID:: PMC7596085

Abstract Article PDF–2.6M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 122

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity