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Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.
Coffin SL, Durham MA, Nitschke L, Xhako E, Brown AM, Revelli JP, Villavicencio Gonzalez E, Lin T, Handler HP, Dai Y, Trostle AJ, Wan YW, Liu Z, Sillitoe RV, Orr HT, Zoghbi HY. Coffin SL, et al. Among authors: zoghbi hy. Neuron. 2023 Mar 15;111(6):915. doi: 10.1016/j.neuron.2023.02.030. Neuron. 2023. PMID: 36924764 Free PMC article. No abstract available.
Literature-based predictions of Mendelian disease therapies.
Deisseroth CA, Lee WS, Kim J, Jeong HH, Dhindsa RS, Wang J, Zoghbi HY, Liu Z. Deisseroth CA, et al. Among authors: zoghbi hy. Am J Hum Genet. 2023 Oct 5;110(10):1661-1672. doi: 10.1016/j.ajhg.2023.08.018. Epub 2023 Sep 22. Am J Hum Genet. 2023. PMID: 37741276 Free PMC article.
Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.
Handler HP, Duvick L, Mitchell JS, Cvetanovic M, Reighard M, Soles A, Mather KB, Rainwater O, Serres S, Nichols-Meade T, Coffin SL, You Y, Ruis BL, O'Callaghan B, Henzler C, Zoghbi HY, Orr HT. Handler HP, et al. Among authors: zoghbi hy. Neuron. 2023 Feb 15;111(4):493-507.e6. doi: 10.1016/j.neuron.2022.11.017. Epub 2022 Dec 27. Neuron. 2023. PMID: 36577403 Free PMC article.
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.
Duvick L, Southern WM, Benzow KA, Burch ZN, Handler HP, Mitchell JS, Kuivinen H, Gadiparthi U, Yang P, Soles A, Sheeler CA, Rainwater O, Serres S, Lind EB, Nichols-Meade T, You Y, O'Callaghan B, Zoghbi HY, Cvetanovic M, Wheeler VC, Ervasti JM, Koob MD, Orr HT. Duvick L, et al. Among authors: zoghbi hy. JCI Insight. 2024 Mar 21;9(9):e176057. doi: 10.1172/jci.insight.176057. JCI Insight. 2024. PMID: 38512434 Free PMC article.
Evolutionarily conserved regulators of tau identify targets for new therapies.
Kim J, de Haro M, Al-Ramahi I, Garaicoechea LL, Jeong HH, Sonn JY, Tadros B, Liu Z, Botas J, Zoghbi HY. Kim J, et al. Among authors: zoghbi hy. Neuron. 2023 Mar 15;111(6):824-838.e7. doi: 10.1016/j.neuron.2022.12.012. Epub 2023 Jan 6. Neuron. 2023. PMID: 36610398 Free article.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ; Intellectual and Developmental Disabilities Research Centers Directors Committee. Walkley SU, et al. Among authors: zoghbi hy. Ann Neurol. 2019 Sep;86(3):332-343. doi: 10.1002/ana.25531. Epub 2019 Jul 27. Ann Neurol. 2019. PMID: 31206741 Free PMC article. Review.
Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY. Bajikar SS, et al. Among authors: zoghbi hy. Hum Mol Genet. 2024 Nov 8;33(22):1986-2001. doi: 10.1093/hmg/ddae135. Hum Mol Genet. 2024. PMID: 39277796 Free PMC article.
401 results