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Caspase-6 activity in a BACHD mouse modulates steady-state levels of mutant huntingtin protein but is not necessary for production of a 586 amino acid proteolytic fragment.
Gafni J, Papanikolaou T, Degiacomo F, Holcomb J, Chen S, Menalled L, Kudwa A, Fitzpatrick J, Miller S, Ramboz S, Tuunanen PI, Lehtimäki KK, Yang XW, Park L, Kwak S, Howland D, Park H, Ellerby LM. Gafni J, et al. Among authors: kwak s. J Neurosci. 2012 May 30;32(22):7454-65. doi: 10.1523/JNEUROSCI.6379-11.2012. J Neurosci. 2012. PMID: 22649225 Free PMC article.
Targeting ATM ameliorates mutant Huntingtin toxicity in cell and animal models of Huntington's disease.
Lu XH, Mattis VB, Wang N, Al-Ramahi I, van den Berg N, Fratantoni SA, Waldvogel H, Greiner E, Osmand A, Elzein K, Xiao J, Dijkstra S, de Pril R, Vinters HV, Faull R, Signer E, Kwak S, Marugan JJ, Botas J, Fischer DF, Svendsen CN, Munoz-Sanjuan I, Yang XW. Lu XH, et al. Among authors: kwak s. Sci Transl Med. 2014 Dec 24;6(268):268ra178. doi: 10.1126/scitranslmed.3010523. Sci Transl Med. 2014. PMID: 25540325
Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice.
Langfelder P, Cantle JP, Chatzopoulou D, Wang N, Gao F, Al-Ramahi I, Lu XH, Ramos EM, El-Zein K, Zhao Y, Deverasetty S, Tebbe A, Schaab C, Lavery DJ, Howland D, Kwak S, Botas J, Aaronson JS, Rosinski J, Coppola G, Horvath S, Yang XW. Langfelder P, et al. Among authors: kwak s. Nat Neurosci. 2016 Apr;19(4):623-33. doi: 10.1038/nn.4256. Epub 2016 Feb 22. Nat Neurosci. 2016. PMID: 26900923 Free PMC article.
Haplotype-based stratification of Huntington's disease.
Chao MJ, Gillis T, Atwal RS, Mysore JS, Arjomand J, Harold D, Holmans P, Jones L, Orth M, Myers RH, Kwak S, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: kwak s. Eur J Hum Genet. 2017 Nov;25(11):1202-1209. doi: 10.1038/ejhg.2017.125. Epub 2017 Aug 23. Eur J Hum Genet. 2017. PMID: 28832564 Free PMC article.
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease.
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J, Mrzljak L, Park L, Heikkinen T, Lehtimäki KK, Svedberg MM, Häggkvist J, Tari L, Tóth M, Varrone A, Halldin C, Kudwa AE, Ramboz S, Day M, Kondapalli J, Surmeier DJ, Urnov FD, Gregory PD, Rebar EJ, Muñoz-Sanjuán I, Zhang HS. Zeitler B, et al. Among authors: kwak s. Nat Med. 2019 Jul;25(7):1131-1142. doi: 10.1038/s41591-019-0478-3. Epub 2019 Jul 1. Nat Med. 2019. PMID: 31263285
Association Analysis of Chromosome X to Identify Genetic Modifiers of Huntington's Disease.
Hong EP, Chao MJ, Massey T, McAllister B, Lobanov S, Jones L, Holmans P, Kwak S, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Hong EP, et al. Among authors: kwak s. J Huntingtons Dis. 2021;10(3):367-375. doi: 10.3233/JHD-210485. J Huntingtons Dis. 2021. PMID: 34180418 Free PMC article.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Among authors: kwak s. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
DNA methylation study of Huntington's disease and motor progression in patients and in animal models.
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S. Lu AT, et al. Among authors: kwak s. Nat Commun. 2020 Sep 10;11(1):4529. doi: 10.1038/s41467-020-18255-5. Nat Commun. 2020. PMID: 32913184 Free PMC article.
2,011 results