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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. Among authors: kwak s. 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.
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.
Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice.
Alexandrov V, Brunner D, Menalled LB, Kudwa A, Watson-Johnson J, Mazzella M, Russell I, Ruiz MC, Torello J, Sabath E, Sanchez A, Gomez M, Filipov I, Cox K, Kwan M, Ghavami A, Ramboz S, Lager B, Wheeler VC, Aaronson J, Rosinski J, Gusella JF, MacDonald ME, Howland D, Kwak S. Alexandrov V, et al. Among authors: kwak s. Nat Biotechnol. 2016 Aug;34(8):838-44. doi: 10.1038/nbt.3587. Epub 2016 Jul 4. Nat Biotechnol. 2016. PMID: 27376585
High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds.
Ament SA, Pearl JR, Grindeland A, St Claire J, Earls JC, Kovalenko M, Gillis T, Mysore J, Gusella JF, Lee JM, Kwak S, Howland D, Lee MY, Baxter D, Scherler K, Wang K, Geman D, Carroll JB, MacDonald ME, Carlson G, Wheeler VC, Price ND, Hood LE. Ament SA, et al. Among authors: kwak s. Hum Mol Genet. 2017 Mar 1;26(5):913-922. doi: 10.1093/hmg/ddx006. Hum Mol Genet. 2017. PMID: 28334820 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.
1,932 results