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Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders.
De Risi M, Tufano M, Alvino FG, Ferraro MG, Torromino G, Gigante Y, Monfregola J, Marrocco E, Pulcrano S, Tunisi L, Lubrano C, Papy-Garcia D, Tuchman Y, Salleo A, Santoro F, Bellenchi GC, Cristino L, Ballabio A, Fraldi A, De Leonibus E. De Risi M, et al. Among authors: ballabio a. Nat Commun. 2021 Jun 9;12(1):3495. doi: 10.1038/s41467-021-23903-5. Nat Commun. 2021. PMID: 34108486 Free PMC article.
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: ballabio a. 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. Among authors: ballabio a. 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
Lysosomal storage diseases as disorders of autophagy.
Settembre C, Fraldi A, Rubinsztein DC, Ballabio A. Settembre C, et al. Among authors: ballabio a. Autophagy. 2008 Jan;4(1):113-4. doi: 10.4161/auto.5227. Epub 2007 Oct 30. Autophagy. 2008. PMID: 18000397
Lysosomal disorders: from storage to cellular damage.
Ballabio A, Gieselmann V. Ballabio A, et al. Biochim Biophys Acta. 2009 Apr;1793(4):684-96. doi: 10.1016/j.bbamcr.2008.12.001. Epub 2008 Dec 8. Biochim Biophys Acta. 2009. PMID: 19111581 Free article. Review.
455 results