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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. 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.
The Polyglutamine Expansion at the N-Terminal of Huntingtin Protein Modulates the Dynamic Configuration and Phosphorylation of the C-Terminal HEAT Domain.
Jung T, Shin B, Tamo G, Kim H, Vijayvargia R, Leitner A, Marcaida MJ, Astorga-Wells J, Jung R, Aebersold R, Peraro MD, Hebert H, Seong IS, Song JJ. Jung T, et al. Structure. 2020 Sep 1;28(9):1035-1050.e8. doi: 10.1016/j.str.2020.06.008. Epub 2020 Jul 14. Structure. 2020. PMID: 32668197 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. 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.
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Biagioli M, et al. Hum Mol Genet. 2015 May 1;24(9):2442-57. doi: 10.1093/hmg/ddv006. Epub 2015 Jan 8. Hum Mol Genet. 2015. PMID: 25574027 Free PMC article.