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Induction of lysosomal biogenesis in atherosclerotic macrophages can rescue lipid-induced lysosomal dysfunction and downstream sequelae.
Emanuel R, Sergin I, Bhattacharya S, Turner J, Epelman S, Settembre C, Diwan A, Ballabio A, Razani B. Emanuel R, et al. Among authors: settembre c. Arterioscler Thromb Vasc Biol. 2014 Sep;34(9):1942-1952. doi: 10.1161/ATVBAHA.114.303342. Epub 2014 Jul 24. Arterioscler Thromb Vasc Biol. 2014. PMID: 25060788 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
73 results