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Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Krey I, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: myers sj. Hum Mol Genet. 2024 Nov 13:ddae156. doi: 10.1093/hmg/ddae156. Online ahead of print. Hum Mol Genet. 2024. PMID: 39535073
Human GRIN2B variants in neurodevelopmental disorders.
Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Hu C, et al. Among authors: myers sj. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi: 10.1016/j.jphs.2016.10.002. Epub 2016 Oct 19. J Pharmacol Sci. 2016. PMID: 27818011 Free PMC article. Review.
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H. Li J, et al. Among authors: myers sj. Hum Mutat. 2019 Dec;40(12):2393-2413. doi: 10.1002/humu.23895. Epub 2019 Sep 10. Hum Mutat. 2019. PMID: 31429998 Free PMC article.
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Zhang J, Tang W, Bhatia NK, Xu Y, Paudyal N, Liu D, Kim S, Song R, XiangWei W, Shaulsky G, Myers SJ, Dobyns W, Jayaraman V, Traynelis SF, Yuan H, Bozarth X. Zhang J, et al. Among authors: myers sj. Front Genet. 2021 Aug 3;12:694312. doi: 10.3389/fgene.2021.694312. eCollection 2021. Front Genet. 2021. PMID: 34413877 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. Among authors: myers sj. 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.
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. Among authors: myers sj. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
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. Among authors: myers sj. 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.
Distances from ligands as main predictive features for pathogenicity and functional effect of variants in NMDA receptors.
Montanucci L, Brünger T, Bhattarai N, Boßelmann CM, Kim S, Allen JP, Zhang J, Klöckner C, Fariselli P, May P, Lemke JR, Myers SJ, Yuan H, Traynelis SF, Lal D. Montanucci L, et al. Among authors: myers sj. medRxiv [Preprint]. 2024 May 7:2024.05.06.24306939. doi: 10.1101/2024.05.06.24306939. medRxiv. 2024. PMID: 38766179 Free PMC article. Preprint.
113 results