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Page 1
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, Paladino S, Baldantoni D, van IJzendoorn SC, Chan J, Chang CJ, Amoresano A, Pane F, Pucci P, Tarallo A, Parenti G, Brunetti-Pierri N, Settembre C, Ballabio A, Polishchuk RS. Polishchuk EV, et al. Among authors: settembre c. Dev Cell. 2014 Jun 23;29(6):686-700. doi: 10.1016/j.devcel.2014.04.033. Epub 2014 Jun 5. Dev Cell. 2014. PMID: 24909901 Free PMC article.
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP, Pepe S, Parenti G, Settembre C, Annunziata I, Wade-Martins R, Di Domenico C, Di Natale P, Mankad A, Cox B, Uziel G, Mancini GM, Zammarchi E, Donati MA, Kleijer WJ, Filocamo M, Carrozzo R, Carella M, Ballabio A. Cosma MP, et al. Among authors: settembre c. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies.
Fraldi A, Biffi A, Lombardi A, Visigalli I, Pepe S, Settembre C, Nusco E, Auricchio A, Naldini L, Ballabio A, Cosma MP. Fraldi A, et al. Among authors: settembre c. Biochem J. 2007 Apr 15;403(2):305-12. doi: 10.1042/BJ20061783. Biochem J. 2007. PMID: 17206939 Free PMC article.
A block of autophagy in lysosomal storage disorders.
Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A. Settembre C, et al. Hum Mol Genet. 2008 Jan 1;17(1):119-29. doi: 10.1093/hmg/ddm289. Epub 2007 Oct 3. Hum Mol Genet. 2008. PMID: 17913701
Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition.
Luciani A, Villella VR, Esposito S, Brunetti-Pierri N, Medina D, Settembre C, Gavina M, Pulze L, Giardino I, Pettoello-Mantovani M, D'Apolito M, Guido S, Masliah E, Spencer B, Quaratino S, Raia V, Ballabio A, Maiuri L. Luciani A, et al. Among authors: settembre c. Nat Cell Biol. 2010 Sep;12(9):863-75. doi: 10.1038/ncb2090. Epub 2010 Aug 15. Nat Cell Biol. 2010. PMID: 20711182
72 results