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Page 1
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Xu Y, Song R, Perszyk RE, Chen W, Kim S, Park KL, Allen JP, Nocilla KA, Zhang J, XiangWei W, Tankovic A, McDaniels ED, Sheikh R, Mizu RK, Karamchandani MM, Hu C, Kusumoto H, Pecha J, Cappuccio G, Gaitanis J, Sullivan J, Shashi V, Petrovski S, Jauss RT, Lee HK, Bozarth X, Lynch DR, Helbig I, Pierson TM, Boerkoel CF, Myers SJ, Lemke JR, Benke TA, Yuan H, Traynelis SF. Xu Y, et al. Cell Mol Life Sci. 2024 Mar 28;81(1):153. doi: 10.1007/s00018-023-05069-z. Cell Mol Life Sci. 2024. PMID: 38538865 Free PMC article.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF. Allen JP, et al. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.
Camp CR, Vlachos A, Klöckner C, Krey I, Banke TG, Shariatzadeh N, Ruggiero SM, Galer P, Park KL, Caccavano A, Kimmel S, Yuan X, Yuan H, Helbig I, Benke TA, Lemke JR, Pelkey KA, McBain CJ, Traynelis SF. Camp CR, et al. Commun Biol. 2023 Sep 19;6(1):952. doi: 10.1038/s42003-023-05298-9. Commun Biol. 2023. PMID: 37723282 Free PMC article.
Development of a Dihydroquinoline-Pyrazoline GluN2C/2D-Selective Negative Allosteric Modulator of the N-Methyl-d-aspartate Receptor.
D'Erasmo MP, Akins NS, Ma P, Jing Y, Swanger SA, Sharma SK, Bartsch PW, Menaldino DS, Arcoria PJ, Bui TT, Pons-Bennaceur A, Le P, Allen JP, Ullman EZ, Nocilla KA, Zhang J, Perszyk RE, Kim S, Acker TM, Taz A, Burton SL, Coe K, Fritzemeier RG, Burnashev N, Yuan H, Liotta DC, Traynelis SF. D'Erasmo MP, et al. ACS Chem Neurosci. 2023 Sep 6;14(17):3059-3076. doi: 10.1021/acschemneuro.3c00181. Epub 2023 Aug 11. ACS Chem Neurosci. 2023. PMID: 37566734 Free PMC article.
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA, Muñoz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA, Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ, Traynelis SF. Xie L, et al. Cell Mol Life Sci. 2023 Mar 31;80(4):110. doi: 10.1007/s00018-023-04705-y. Cell Mol Life Sci. 2023. PMID: 37000222 Free PMC article.
Novel neuroactive steroids as positive allosteric modulators of NMDA receptors: mechanism, site of action, and rescue pharmacology on GRIN variants associated with neurological conditions.
Tang W, Beckley JT, Zhang J, Song R, Xu Y, Kim S, Quirk MC, Robichaud AJ, Diaz ES, Myers SJ, Doherty JJ, Ackley MA, Traynelis SF, Yuan H. Tang W, et al. Cell Mol Life Sci. 2023 Jan 16;80(2):42. doi: 10.1007/s00018-022-04667-7. Cell Mol Life Sci. 2023. PMID: 36645496 Free PMC article.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, Mancini GMS, Hehr U, Lim D, Mansour S, Traynelis SF, Beneteau C, Denis-Musquer M, Jansen AC, Fry AE, Bahi-Buisson N. Brock S, et al. J Med Genet. 2023 Feb;60(2):183-192. doi: 10.1136/jmedgenet-2021-107971. Epub 2022 Apr 7. J Med Genet. 2023. PMID: 35393335 Free PMC article.
44 results