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A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice.
Hölter SM, Stromberg M, Kovalenko M, Garrett L, Glasl L, Lopez E, Guide J, Götz A, Hans W, Becker L, Rathkolb B, Rozman J, Schrewed A, Klingenspor M, Klopstock T, Schulz H, Wolf E, Wursta W, Gillis T, Wakimoto H, Seidman J, MacDonald ME, Cotman S, Gailus-Durner V, Fuchs H, de Angelis MH, Lee JM, Wheeler VC. Hölter SM, et al. Among authors: cotman s. PLoS One. 2013 Nov 22;8(11):e80923. doi: 10.1371/journal.pone.0080923. eCollection 2013. PLoS One. 2013. PMID: 24278347 Free PMC article.
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL. Staropoli JF, et al. Among authors: cotman sl. PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6. PLoS One. 2012. PMID: 22701626 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. Among authors: cotman sl. 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.
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.
Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Gao H, et al. Among authors: cotman sl. Am J Hum Genet. 2002 Feb;70(2):324-35. doi: 10.1086/338190. Epub 2001 Dec 21. Am J Hum Genet. 2002. PMID: 11791207 Free PMC article.
46 results