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Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Micale L, Morlino S, Biagini T, Carbone A, Fusco C, Ritelli M, Giambra V, Zoppi N, Nardella G, Notarangelo A, Schirizzi A, Mazzoccoli G, Grammatico P, Wade EM, Mazza T, Colombi M, Castori M. Micale L, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165742. doi: 10.1016/j.bbadis.2020.165742. Epub 2020 Feb 24. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32105826 Free article.
Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.
Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A. Micale L, et al. Eur J Hum Genet. 2008 Sep;16(9):1038-49. doi: 10.1038/ejhg.2008.68. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398435 Free PMC article.
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.
TRIM8 modulates p53 activity to dictate cell cycle arrest.
Caratozzolo MF, Micale L, Turturo MG, Cornacchia S, Fusco C, Marzano F, Augello B, D'Erchia AM, Guerrini L, Pesole G, Sbisà E, Merla G, Tullo A. Caratozzolo MF, et al. Among authors: micale l. Cell Cycle. 2012 Feb 1;11(3):511-23. doi: 10.4161/cc.11.3.19008. Epub 2012 Feb 1. Cell Cycle. 2012. PMID: 22262183
The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.
Fusco C, Micale L, Egorov M, Monti M, D'Addetta EV, Augello B, Cozzolino F, Calcagnì A, Fontana A, Polishchuk RS, Didelot G, Reymond A, Pucci P, Merla G. Fusco C, et al. Among authors: micale l. PLoS One. 2012;7(7):e40440. doi: 10.1371/journal.pone.0040440. Epub 2012 Jul 9. PLoS One. 2012. PMID: 22792322 Free PMC article.
The tripartite motif: structure and function.
Micale L, Chaignat E, Fusco C, Reymond A, Merla G. Micale L, et al. Adv Exp Med Biol. 2012;770:11-25. Adv Exp Med Biol. 2012. PMID: 23630997 Review.
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