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1997 1
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41 results

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Page 1
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY. Gennarino VA, et al. Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006. Cell. 2018. PMID: 29474920 Free PMC article.
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. 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.
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. Neuron. 2023 Feb 15;111(4):481-492.e8. doi: 10.1016/j.neuron.2022.11.016. Epub 2022 Dec 27. Neuron. 2023. PMID: 36577402 Free PMC article.
Deficiency of Capicua disrupts bile acid homeostasis.
Kim E, Park S, Choi N, Lee J, Yoe J, Kim S, Jung HY, Kim KT, Kang H, Fryer JD, Zoghbi HY, Hwang D, Lee Y. Kim E, et al. Sci Rep. 2015 Feb 5;5:8272. doi: 10.1038/srep08272. Sci Rep. 2015. PMID: 25653040 Free PMC article.
Dual targeting of brain region-specific kinases potentiates neurological rescue in Spinocerebellar ataxia type 1.
Lee WS, Lavery L, Rousseaux MWC, Rutledge EB, Jang Y, Wan YW, Wu SR, Kim W, Al-Ramahi I, Rath S, Adamski CJ, Bondar VV, Tewari A, Soleimani S, Mota S, Yalamanchili HK, Orr HT, Liu Z, Botas J, Zoghbi HY. Lee WS, et al. EMBO J. 2021 Apr 1;40(7):e106106. doi: 10.15252/embj.2020106106. Epub 2021 Mar 11. EMBO J. 2021. PMID: 33709453 Free PMC article.
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. 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.
41 results