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Huntingtin suppression restores cognitive function in a mouse model of Huntington's disease.
Southwell AL, Kordasiewicz HB, Langbehn D, Skotte NH, Parsons MP, Villanueva EB, Caron NS, Østergaard ME, Anderson LM, Xie Y, Cengio LD, Findlay-Black H, Doty CN, Fitsimmons B, Swayze EE, Seth PP, Raymond LA, Frank Bennett C, Hayden MR. Southwell AL, et al. Sci Transl Med. 2018 Oct 3;10(461):eaar3959. doi: 10.1126/scitranslmed.aar3959. Sci Transl Med. 2018. PMID: 30282695
A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles.
Southwell AL, Skotte NH, Villanueva EB, Østergaard ME, Gu X, Kordasiewicz HB, Kay C, Cheung D, Xie Y, Waltl S, Dal Cengio L, Findlay-Black H, Doty CN, Petoukhov E, Iworima D, Slama R, Ooi J, Pouladi MA, Yang XW, Swayze EE, Seth PP, Hayden MR. Southwell AL, et al. Hum Mol Genet. 2017 Mar 15;26(6):1115-1132. doi: 10.1093/hmg/ddx021. Hum Mol Genet. 2017. PMID: 28104789
The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population.
Kay C, Collins JA, Wright GEB, Baine F, Miedzybrodzka Z, Aminkeng F, Semaka AJ, McDonald C, Davidson M, Madore SJ, Gordon ES, Gerry NP, Cornejo-Olivas M, Squitieri F, Tishkoff S, Greenberg JL, Krause A, Hayden MR. Kay C, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):346-357. doi: 10.1002/ajmg.b.32618. Epub 2018 Feb 20. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 29460498