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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: perszyk r. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
Three-dimensional missense tolerance ratio analysis.
Perszyk RE, Kristensen AS, Lyuboslavsky P, Traynelis SF. Perszyk RE, et al. Genome Res. 2021 Aug;31(8):1447-1461. doi: 10.1101/gr.275528.121. Epub 2021 Jul 22. Genome Res. 2021. PMID: 34301626 Free PMC article.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W, Perszyk RE, Liu N, Xu Y, Bhattacharya S, Shaulsky GH, Smith-Hicks C, Fatemi A, Fry AE, Chandler K, Wang T, Vogt J, Cohen JS, Paciorkowski AR, Poduri A, Zhang Y, Wang S, Wang Y, Zhai Q, Fang F, Leng J, Garber K, Myers SJ, Jauss RT, Park KL, Benke TA, Lemke JR, Yuan H, Jiang Y, Traynelis SF. XiangWei W, et al. Among authors: perszyk re. Cell Mol Life Sci. 2023 Nov 3;80(11):345. doi: 10.1007/s00018-023-04991-6. Cell Mol Life Sci. 2023. PMID: 37921875 Free PMC article.
Functional Assessment of Cancer-Linked Mutations in Sensitive Regions of Regulators of G Protein Signaling Predicted by Three-Dimensional Missense Tolerance Ratio Analysis.
Montañez-Miranda C, Perszyk RE, Harbin NH, Okalova J, Ramineni S, Traynelis SF, Hepler JR. Montañez-Miranda C, et al. Among authors: perszyk re. Mol Pharmacol. 2023 Jan;103(1):21-37. doi: 10.1124/molpharm.122.000614. Epub 2022 Nov 16. Mol Pharmacol. 2023. PMID: 36384958 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. Among authors: perszyk re. 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.
26 results