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407 results

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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.
Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis.
Bajikar SS, Zhou J, O'Hara R, Tirumala HP, Durham MA, Trostle AJ, Dias M, Shao Y, Chen H, Wang W, Yalamanchili HK, Wan YW, Banaszynski LA, Liu Z, Zoghbi HY. Bajikar SS, et al. Among authors: zoghbi hy. Neuron. 2024 Dec 6:S0896-6273(24)00806-7. doi: 10.1016/j.neuron.2024.11.006. Online ahead of print. Neuron. 2024. PMID: 39689710 Free 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.
Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.
Pehlivan D, Huang C, Harris HK, Coquery C, Mahat A, Maletic-Savatic M, Mignon L, Aras S, Glaze DG, Layne CS, Sahelijo L, Zoghbi HY, McGinley MJ, Suter B. Pehlivan D, et al. Among authors: zoghbi hy. Ann Clin Transl Neurol. 2025 Jan 21. doi: 10.1002/acn3.52269. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 39838601 Free article.
407 results