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Page 1
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Talkowski ME, et al. Among authors: biagioli m. Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016. Am J Hum Genet. 2012. PMID: 23217328 Free PMC article.
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Biagioli M, et al. Hum Mol Genet. 2015 May 1;24(9):2442-57. doi: 10.1093/hmg/ddv006. Epub 2015 Jan 8. Hum Mol Genet. 2015. PMID: 25574027 Free PMC article.
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
Murthy V, Tebaldi T, Yoshida T, Erdin S, Calzonetti T, Vijayvargia R, Tripathi T, Kerschbamer E, Seong IS, Quattrone A, Talkowski ME, Gusella JF, Georgopoulos K, MacDonald ME, Biagioli M. Murthy V, et al. Among authors: biagioli m. PLoS Genet. 2019 Mar 21;15(3):e1007765. doi: 10.1371/journal.pgen.1007765. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30897080 Free PMC article.
Tumor necrosis factor receptor-associated factor 6 (TRAF6) associates with huntingtin protein and promotes its atypical ubiquitination to enhance aggregate formation.
Zucchelli S, Marcuzzi F, Codrich M, Agostoni E, Vilotti S, Biagioli M, Pinto M, Carnemolla A, Santoro C, Gustincich S, Persichetti F. Zucchelli S, et al. Among authors: biagioli m. J Biol Chem. 2011 Jul 15;286(28):25108-17. doi: 10.1074/jbc.M110.187591. Epub 2011 Mar 25. J Biol Chem. 2011. PMID: 21454471 Free PMC article.
Epigenetics of Huntington's Disease.
Bassi S, Tripathi T, Monziani A, Di Leva F, Biagioli M. Bassi S, et al. Among authors: biagioli m. Adv Exp Med Biol. 2017;978:277-299. doi: 10.1007/978-3-319-53889-1_15. Adv Exp Med Biol. 2017. PMID: 28523552 Review.
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. Sugathan A, et al. Among authors: biagioli m. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7. Proc Natl Acad Sci U S A. 2014. PMID: 25294932 Free PMC article.
220 results