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Items: 1 to 20 of 25

1.
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Vincent Strehlow, Henrike O Heyne, Danique R M Vlaskamp, Katie F M Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H Brilstra, Oebele F Brouwer, Petra M C Callenbach, Julia Hentschel, Edouard Hirsch, Peter C Kind, Cyril Mignot, Konrad Platzer, Patrick Rump, Paul A Skehel, David J A Wyllie, Giles E Hardingham, Conny M A van Ravenswaaij-Arts, Gaetan Lesca, Johannes R Lemke, GRIN2A study group
Brain. 2019 Jan; 142(1): 80–92. Published online 2018 Dec 12. doi: 10.1093/brain/awy304
PMCID:
PMC6308310
AbstractArticlePDF–999K
2.
A rapid and simple PCR-based method for isolation of cDNAs from differentially expressed genes.
B P Sokolov, D J Prockop
Nucleic Acids Res. 1994 Sep 25; 22(19): 4009–4015. doi: 10.1093/nar/22.19.4009
PMCID:
PMC308403
SummaryPage BrowsePDF–1.3M
3.
PDZ Protein Interactions Underlying NMDA Receptor-Mediated Excitotoxicity and Neuroprotection by PSD-95 Inhibitors
Hong Cui, Amy Hayashi, Hong-Shuo Sun, Michael P. Belmares, Carolyn Cobey, Thuymy Phan, Johannes Schweizer, Michael W. Salter, Yu Tian Wang, R. Andrew Tasker, David Garman, Joshua Rabinowitz, Peter S. Lu, Michael Tymianski
J Neurosci. 2007 Sep 12; 27(37): 9901–9915. doi: 10.1523/JNEUROSCI.1464-07.2007
PMCID:
PMC6672641
AbstractArticlePDF–616K
4.
The human NMDA receptor GluN2AN615K variant influences channel blocker potency
Katie F. M. Marwick, Paul A. Skehel, Giles E. Hardingham, David J. A. Wyllie
Pharmacol Res Perspect. 2019 Aug; 7(4): e00495. Published online 2019 Jun 20. doi: 10.1002/prp2.495
PMCID:
PMC6584472
AbstractArticlePDF–1.3M
5.
Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy
Katie F. M. Marwick, Kasper B. Hansen, Paul A. Skehel, Giles E. Hardingham, David J. A. Wyllie
J Physiol. 2019 Mar 15; 597(6): 1691–1704. Published online 2019 Jan 30. doi: 10.1113/JP277292
PMCID:
PMC6418762
AbstractArticlePDF–1.1M
6.
Marine Mammals’ NMDA Receptor Structure: Possible Adaptation to High Pressure Environment
Alice Bliznyuk, Hava Golan, Yoram Grossman
Front Physiol. 2018; 9: 1633. Published online 2018 Nov 22. doi: 10.3389/fphys.2018.01633
PMCID:
PMC6262034
AbstractArticlePDF–11M
7.
A novel missense mutation in GRIN2A causes a non-epileptic neurodevelopmental disorder
Ana Fernández-Marmiesse, Hirofumi Kusumoto, Saray Rekarte, Iria Roca, Jin Zhang, Scott J. Myers, Stephen F. Traynelis, Ma Luz Couce, Luis Gutierrez-Solana, Hongjie Yuan
Mov Disord. Author manuscript; available in PMC 2019 Jul 1.
Published in final edited form as: Mov Disord. 2018 Jul; 33(6): 992–999. Published online 2018 Apr 11. doi: 10.1002/mds.27315
PMCID:
PMC6105539
AbstractArticlePDF–718K
8.
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Andrew E Fry, Katherine A Fawcett, Nathanel Zelnik, Hongjie Yuan, Belinda A N Thompson, Lilach Shemer-Meiri, Thomas D Cushion, Hood Mugalaasi, David Sims, Neil Stoodley, Seo-Kyung Chung, Mark I Rees, Chirag V Patel, Louise A Brueton, Valérie Layet, Fabienne Giuliano, Michael P Kerr, Ehud Banne, Vardiella Meiner, Tally Lerman-Sagie, Katherine L Helbig, Laura H Kofman, Kristin M Knight, Wenjuan Chen, Varun Kannan, Chun Hu, Hirofumi Kusumoto, Jin Zhang, Sharon A Swanger, Gil H Shaulsky, Ghayda M Mirzaa, Alison M Muir, Heather C Mefford, William B Dobyns, Amanda B Mackenzie, Jonathan G L Mullins, Johannes R Lemke, Nadia Bahi-Buisson, Stephen F Traynelis, Heledd F Iago, Daniela T Pilz
Brain. 2018 Mar; 141(3): 698–712. Published online 2018 Jan 22. doi: 10.1093/brain/awx358
PMCID:
PMC5837214
AbstractArticlePDF–698K
9.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan, Tyler Mark Pierson
J Hum Genet. Author manuscript; available in PMC 2017 Oct 12.
Published in final edited form as: J Hum Genet. 2017 Jun; 62(6): 589–597. Published online 2017 Feb 23. doi: 10.1038/jhg.2017.19
PMCID:
PMC5637523
AbstractArticlePDF–654K
10.
Identification of AICP as a GluN2C-Selective N-Methyl-d-Aspartate Receptor Superagonist at the GluN1 Glycine Site
Maja Jessen, Kristen Frederiksen, Feng Yi, Rasmus P. Clausen, Kasper B. Hansen, Hans Bräuner-Osborne, Paul Kilburn, Anders Damholt
Mol Pharmacol. 2017 Aug; 92(2): 151–161. Published online 2017 Aug. doi: 10.1124/mol.117.108944
Correction in:
Mol Pharmacol. 2018 Oct; 94(4): 1101–1102.
PMCID:
PMC5508192
AbstractArticlePDF–1.5M
11.
Functional Properties of Human NMDA Receptors Associated with Epilepsy-Related Mutations of GluN2A Subunit
Dmitry A. Sibarov, Nadine Bruneau, Sergei M. Antonov, Pierre Szepetowski, Nail Burnashev, Rashid Giniatullin
Front Cell Neurosci. 2017; 11: 155. Published online 2017 May 29. doi: 10.3389/fncel.2017.00155
PMCID:
PMC5447064
AbstractArticlePDF–1.8M
12.
Functional assessment of the NMDA receptor variant GluN2A R586K
Katie F.M. Marwick, Peter Parker, Paul Skehel, Giles Hardingham, David J.A. Wyllie
Version 2. Wellcome Open Res. 2017; 2: 20. Published online 2017 Apr 26. doi: 10.12688/wellcomeopenres.10985.2
PMCID:
PMC5407442
AbstractArticlePDF–1.8M
13.
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy
Wenjuan Chen, Anel Tankovic, Pieter B. Burger, Hirofumi Kusumoto, Stephen F. Traynelis, Hongjie Yuan
Mol Pharmacol. 2017 Apr; 91(4): 317–330. Published online 2017 Apr. doi: 10.1124/mol.116.106781
PMCID:
PMC5363715
AbstractArticlePDF–2.2M
14.
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
Sharon A. Swanger, Wenjuan Chen, Gordon Wells, Pieter B. Burger, Anel Tankovic, Subhrajit Bhattacharya, Katie L. Strong, Chun Hu, Hirofumi Kusumoto, Jing Zhang, David R. Adams, John J. Millichap, Slavé Petrovski, Stephen F. Traynelis, Hongjie Yuan
Am J Hum Genet. 2016 Dec 1; 99(6): 1261–1280. Published online 2016 Nov 10. doi: 10.1016/j.ajhg.2016.10.002
PMCID:
PMC5142120
AbstractArticlePDF–4.0M
15.
DYRK1A-mediated phosphorylation of GluN2A at Ser1048 regulates the surface expression and channel activity of GluN1/GluN2A receptors
Cristina Grau, Krisztina Arató, José M. Fernández-Fernández, Aitana Valderrama, Carlos Sindreu, Cristina Fillat, Isidre Ferrer, Susana de la Luna, Xavier Altafaj
Front Cell Neurosci. 2014; 8: 331. Published online 2014 Oct 17. doi: 10.3389/fncel.2014.00331
PMCID:
PMC4201086
AbstractArticlePDF–1.8M
16.
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
Tyler Mark Pierson, Hongjie Yuan, Eric D Marsh, Karin Fuentes-Fajardo, David R Adams, Thomas Markello, Gretchen Golas, Dimitre R Simeonov, Conisha Holloman, Anel Tankovic, Manish M Karamchandani, John M Schreiber, James C Mullikin, Cynthia J Tifft, Camilo Toro, Cornelius F Boerkoel, Stephen F Traynelis, William A Gahl
Ann Clin Transl Neurol. 2014 Mar; 1(3): 190–198. Published online 2014 Mar 3. doi: 10.1002/acn3.39
PMCID:
PMC4019449
AbstractArticlePDF–453K
17.
Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
Hongjie Yuan, Kasper B. Hansen, Jing Zhang, Tyler Mark Pierson, Thomas C. Markello, Karin V. Fuentes Fajardo, Conisha M. Holloman, Gretchen Golas, David R. Adams, Cornelius F. Boerkoel, William A. Gahl, Stephen F. Traynelis
Nat Commun. Author manuscript; available in PMC 2014 Aug 7.
Published in final edited form as: Nat Commun. 2014; 5: 3251. doi: 10.1038/ncomms4251
PMCID:
PMC3934797
AbstractArticlePDF–1.5M
18.
GRIN2A mutations cause epilepsy-aphasia spectrum disorders
Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, Ingrid E Scheffer, Heather C Mefford
Nat Genet. Author manuscript; available in PMC 2014 Mar 1.
Published in final edited form as: Nat Genet. 2013 Sep; 45(9): 1073–1076. Published online 2013 Aug 11. doi: 10.1038/ng.2727
PMCID:
PMC3868952
ArticlePDF–645K
19.
Zebrafish: A Model for the Study of Addiction Genetics
Eric W Klee, Henning Schneider, Karl Clark, Margot Cousin, Jon Ebbert, Michael Hooten, Victor Karpyak, David Warner, Stephen Ekker
Hum Genet. Author manuscript; available in PMC 2013 Dec 12.
Published in final edited form as: Hum Genet. 2012 Jun; 131(6): 10.1007/s00439-011-1128-0. Published online 2011 Dec 30. doi: 10.1007/s00439-011-1128-0
PMCID:
PMC3860818
AbstractArticlePDF–367K
20.
The Major Brain Cholesterol Metabolite 24(S)-Hydroxycholesterol Is a Potent Allosteric Modulator of N-Methyl-d-Aspartate Receptors
Steven M. Paul, James J. Doherty, Albert J. Robichaud, Gabriel M. Belfort, Brian Y. Chow, Rebecca S. Hammond, Devon C. Crawford, Andrew J. Linsenbardt, Hong-Jin Shu, Yukitoshi Izumi, Steven J. Mennerick, Charles F. Zorumski
J Neurosci. 2013 Oct 30; 33(44): 17290–17300. doi: 10.1523/JNEUROSCI.2619-13.2013
PMCID:
PMC3812502
AbstractArticlePDF–2.1M

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