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Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP. Sathasivam K, et al. Among authors: detloff pj. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22. Proc Natl Acad Sci U S A. 2013. PMID: 23341618 Free PMC article.
DNA instability in postmitotic neurons.
Gonitel R, Moffitt H, Sathasivam K, Woodman B, Detloff PJ, Faull RL, Bates GP. Gonitel R, et al. Among authors: detloff pj. Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3467-72. doi: 10.1073/pnas.0800048105. Epub 2008 Feb 25. Proc Natl Acad Sci U S A. 2008. PMID: 18299573 Free PMC article.
Rodent genetic models of Huntington disease.
Heng MY, Detloff PJ, Albin RL. Heng MY, et al. Among authors: detloff pj. Neurobiol Dis. 2008 Oct;32(1):1-9. doi: 10.1016/j.nbd.2008.06.005. Epub 2008 Jun 26. Neurobiol Dis. 2008. PMID: 18638556 Review.
Allelic series of Huntington's disease knock-in mice reveals expression discorrelates.
Kumar A, Zhang J, Tallaksen-Greene S, Crowley MR, Crossman DK, Morton AJ, Van Groen T, Kadish I, Albin RL, Lesort M, Detloff PJ. Kumar A, et al. Among authors: detloff pj. Hum Mol Genet. 2016 Apr 15;25(8):1619-36. doi: 10.1093/hmg/ddw040. Epub 2016 Feb 14. Hum Mol Genet. 2016. PMID: 26908599 Free PMC article.
43 results