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Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Kim KH, et al. Among authors: lee jm, lee r. Am J Hum Genet. 2020 Jul 2;107(1):96-110. doi: 10.1016/j.ajhg.2020.05.012. Epub 2020 Jun 25. Am J Hum Genet. 2020. PMID: 32589923 Free PMC article.
Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity.
Shin B, Jung R, Oh H, Owens GE, Lee H, Kwak S, Lee R, Cotman SL, Lee JM, MacDonald ME, Song JJ, Vijayvargia R, Seong IS. Shin B, et al. Among authors: lee h, lee jm, lee r. Mol Ther Nucleic Acids. 2018 Jun 1;11:416-428. doi: 10.1016/j.omtn.2018.03.008. Epub 2018 Mar 16. Mol Ther Nucleic Acids. 2018. PMID: 29858077 Free PMC article.
Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME. Loupe JM, et al. Among authors: lee jm, lee r. Hum Mol Genet. 2020 Nov 4;29(18):3044-3053. doi: 10.1093/hmg/ddaa196. Hum Mol Genet. 2020. PMID: 32876667 Free PMC article.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Jung R, Lee Y, Barker D, Correia K, Shin B, Loupe J, Collins RL, Lucente D, Ruliera J, Gillis T, Mysore JS, Rodan L, Picker J, Lee JM, Howland D, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS. Jung R, et al. Among authors: lee y, lee jm, lee r. Hum Mol Genet. 2021 Apr 26;30(3-4):135-148. doi: 10.1093/hmg/ddaa283. Hum Mol Genet. 2021. PMID: 33432339 Free PMC article.
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13.
Cariulo C, Verani M, Martufi P, Ingenito R, Finotto M, Deguire SM, Lavery DJ, Toledo-Sherman L, Lee R, Doherty EM, Vogt TF, Dominguez C, Lashuel HA, Petricca L, Caricasole A. Cariulo C, et al. Among authors: lee r. Biochem Biophys Res Commun. 2020 Jan 15;521(3):549-554. doi: 10.1016/j.bbrc.2019.09.097. Epub 2019 Oct 31. Biochem Biophys Res Commun. 2020. PMID: 31677786
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