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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.
The big tau splice isoform resists Alzheimer's-related pathological changes.
Chung DC, Deng X, Yalamanchili HK, Revelli JP, Han AL, Tadros B, Richman R, Dias M, Naini FA, Boeynaems S, Hyman BT, Zoghbi HY. Chung DC, et al. Among authors: zoghbi hy. bioRxiv [Preprint]. 2024 Jul 31:2024.07.30.605685. doi: 10.1101/2024.07.30.605685. bioRxiv. 2024. PMID: 39211086 Free PMC article. Preprint.
MeCP2 Interacts with the Super Elongation Complex to Regulate Transcription.
Sonn JY, Kim W, Iwanaszko M, Aoi Y, Li Y, Parkitny L, Brissette JL, Weiner L, Al-Ramahi I, Botas J, Shilatifard A, Zoghbi HY. Sonn JY, et al. Among authors: zoghbi hy. bioRxiv [Preprint]. 2024 Jul 1:2024.06.30.601446. doi: 10.1101/2024.06.30.601446. bioRxiv. 2024. PMID: 39005382 Free PMC article. Preprint.
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.
Longitudinal single-cell transcriptional dynamics throughout neurodegeneration in SCA1.
Tejwani L, Ravindra NG, Lee C, Cheng Y, Nguyen B, Luttik K, Ni L, Zhang S, Morrison LM, Gionco J, Xiang Y, Yoon J, Ro H, Haidery F, Grijalva RM, Bae E, Kim K, Martuscello RT, Orr HT, Zoghbi HY, McLoughlin HS, Ranum LPW, Shakkottai VG, Faust PL, Wang S, van Dijk D, Lim J. Tejwani L, et al. Among authors: zoghbi hy. Neuron. 2024 Feb 7;112(3):362-383.e15. doi: 10.1016/j.neuron.2023.10.039. Epub 2023 Nov 27. Neuron. 2024. PMID: 38016472 Free article.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels.
Zhou J, Cattoglio C, Shao Y, Tirumala HP, Vetralla C, Bajikar SS, Li Y, Chen H, Wang Q, Wu Z, Tang B, Zahabiyon M, Bajic A, Meng X, Ferrie JJ, LaGrone A, Zhang P, Kim JJ, Tang J, Liu Z, Darzacq X, Heintz N, Tjian R, Zoghbi HY. Zhou J, et al. Among authors: zoghbi hy. Genes Dev. 2023 Oct 1;37(19-20):883-900. doi: 10.1101/gad.350733.123. Epub 2023 Oct 27. Genes Dev. 2023. PMID: 37890975 Free PMC article.
401 results