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An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function.
Kambali M, Li Y, Unichenko P, Feria Pliego JA, Yadav R, Liu J, McGuinness P, Cobb JG, Wang M, Nagarajan R, Lyu J, Vongsouthi V, Jackson CJ, Engin E, Coyle JT, Shin J, Hodgson NW, Hensch TK, Talkowski ME, Homanics GE, Bolshakov VY, Henneberger C, Rudolph U. Kambali M, et al. Among authors: talkowski me. Mol Psychiatry. 2024 Aug 30. doi: 10.1038/s41380-024-02711-5. Online ahead of print. Mol Psychiatry. 2024. PMID: 39210012
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.
Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Domingo A, et al. Among authors: talkowski me. Am J Hum Genet. 2021 Nov 4;108(11):2145-2158. doi: 10.1016/j.ajhg.2021.09.017. Epub 2021 Oct 20. Am J Hum Genet. 2021. PMID: 34672987 Free PMC article.
A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampus.
Kambali M, Li Y, Unichenko P, Pliego JF, Yadav R, Liu J, McGuinness P, Cobb JG, Wang M, Nagarajan R, Lyu J, Vongsouthi V, Jackson CJ, Engin E, Coyle JT, Shin J, Talkowski ME, Homanics GE, Bolshakov VY, Henneberger C, Rudolph U. Kambali M, et al. Among authors: talkowski me. bioRxiv [Preprint]. 2023 May 29:2023.05.29.542745. doi: 10.1101/2023.05.29.542745. bioRxiv. 2023. PMID: 37398055 Free PMC article. Preprint.
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, DuPont B, Chaubey A, Lin AE, Talkowski ME. Hodge JC, et al. Among authors: talkowski me. Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16. Mol Psychiatry. 2014. PMID: 23587880 Free PMC article.
Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing.
Paulsen BS, Mandal PK, Frock RL, Boyraz B, Yadav R, Upadhyayula S, Gutierrez-Martinez P, Ebina W, Fasth A, Kirchhausen T, Talkowski ME, Agarwal S, Alt FW, Rossi DJ. Paulsen BS, et al. Among authors: talkowski me. Nat Biomed Eng. 2017 Nov;1(11):878-888. doi: 10.1038/s41551-017-0145-2. Epub 2017 Oct 9. Nat Biomed Eng. 2017. PMID: 31015609 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: talkowski me. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME. Mohajeri K, et al. Among authors: talkowski me. Am J Hum Genet. 2022 Nov 3;109(11):2049-2067. doi: 10.1016/j.ajhg.2022.09.015. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283406 Free PMC article.
193 results