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Cross-species analysis identifies mitochondrial dysregulation as a functional consequence of the schizophrenia-associated 3q29 deletion.
Purcell RH, Sefik E, Werner E, King AT, Mosley TJ, Merritt-Garza ME, Chopra P, McEachin ZT, Karne S, Raj N, Vaglio BJ, Sullivan D, Firestein BL, Tilahun K, Robinette MI, Warren ST, Wen Z, Faundez V, Sloan SA, Bassell GJ, Mulle JG. Purcell RH, et al. Sci Adv. 2023 Aug 18;9(33):eadh0558. doi: 10.1126/sciadv.adh0558. Epub 2023 Aug 16. Sci Adv. 2023. PMID: 37585521 Free PMC article.
Behavioral changes and growth deficits in a CRISPR engineered mouse model of the schizophrenia-associated 3q29 deletion.
Rutkowski TP, Purcell RH, Pollak RM, Grewenow SM, Gafford GM, Malone T, Khan UA, Schroeder JP, Epstein MP, Bassell GJ, Warren ST, Weinshenker D, Caspary T, Mulle JG. Rutkowski TP, et al. Among authors: purcell rh. Mol Psychiatry. 2021 Mar;26(3):772-783. doi: 10.1038/s41380-019-0413-5. Epub 2019 Apr 11. Mol Psychiatry. 2021. PMID: 30976085 Free PMC article.
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
Sanchez Russo R, Gambello MJ, Murphy MM, Aberizk K, Black E, Burrell TL, Carlock G, Cubells JF, Epstein MT, Espana R, Goines K, Guest RM, Klaiman C, Koh S, Leslie EJ, Li L, Novacek DM, Saulnier CA, Sefik E, Shultz S, Walker E, White SP; Emory 3q29 Project; Mulle JG. Sanchez Russo R, et al. Genet Med. 2021 May;23(5):872-880. doi: 10.1038/s41436-020-01053-1. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564151 Free PMC article.
Metabolic effects of the schizophrenia-associated 3q29 deletion.
Pollak RM, Purcell RH, Rutkowski TP, Malone T, Pachura KJ, Bassell GJ, Epstein MP, Dawson PA, Smith MR, Jones DP, Zwick ME, Warren ST, Caspary T, Weinshenker D, Mulle JG. Pollak RM, et al. Among authors: purcell rh. Transl Psychiatry. 2022 Feb 17;12(1):66. doi: 10.1038/s41398-022-01824-1. Transl Psychiatry. 2022. PMID: 35177588 Free PMC article.
Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.
McEachin ZT, Gendron TF, Raj N, García-Murias M, Banerjee A, Purcell RH, Ward PJ, Todd TW, Merritt-Garza ME, Jansen-West K, Hales CM, García-Sobrino T, Quintáns B, Holler CJ, Taylor G, San Millán B, Teijeira S, Yamashita T, Ohkubo R, Boulis NM, Xu C, Wen Z, Streichenberger N; Neuro–CEB Neuropathology Network; Fogel BL, Kukar T, Abe K, Dickson DW, Arias M, Glass JD, Jiang J, Tansey MG, Sobrido MJ, Petrucelli L, Rossoll W, Bassell GJ. McEachin ZT, et al. Among authors: purcell rh. Neuron. 2020 Jul 22;107(2):292-305.e6. doi: 10.1016/j.neuron.2020.04.011. Epub 2020 May 5. Neuron. 2020. PMID: 32375063 Free PMC article.
612 results