Ballabio A - Search Results

1

Autophagy in astrocytes: a novel culprit in lysosomal storage disorders.

Di Malta C, Fryer JD, Settembre C, Ballabio A. Di Malta C, et al. Among authors: ballabio a. Autophagy. 2012 Dec;8(12):1871-2. doi: 10.4161/auto.22184. Epub 2012 Oct 9. Autophagy. 2012. PMID: 23047468 Free PMC article.

2

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: ballabio a. Hum Mutat. 2004 Jun;23(6):576-81. doi: 10.1002/humu.20040. Hum Mutat. 2004. PMID: 15146462

3

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.

4

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Settembre C, Annunziata I, Spampanato C, Zarcone D, Cobellis G, Nusco E, Zito E, Tacchetti C, Cosma MP, Ballabio A. Settembre C, et al. Among authors: ballabio a. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4506-11. doi: 10.1073/pnas.0700382104. Epub 2007 Mar 6. Proc Natl Acad Sci U S A. 2007. PMID: 17360554 Free PMC article.

5

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.

Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, Cosma MP. Zito E, et al. Among authors: ballabio a. EMBO J. 2007 May 16;26(10):2443-53. doi: 10.1038/sj.emboj.7601695. Epub 2007 Apr 19. EMBO J. 2007. PMID: 17446859 Free PMC article.

6

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

Annunziata I, Bouchè V, Lombardi A, Settembre C, Ballabio A. Annunziata I, et al. Among authors: ballabio a. Hum Mutat. 2007 Sep;28(9):928. doi: 10.1002/humu.9504. Hum Mutat. 2007. PMID: 17657823

7

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

8

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

9

Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification.

Settembre C, Arteaga-Solis E, McKee MD, de Pablo R, Al Awqati Q, Ballabio A, Karsenty G. Settembre C, et al. Among authors: ballabio a. Genes Dev. 2008 Oct 1;22(19):2645-50. doi: 10.1101/gad.1711308. Genes Dev. 2008. PMID: 18832069 Free PMC article.

10

Self-eating in skeletal development: implications for lysosomal storage disorders.

Settembre C, Arteaga-Solis E, Ballabio A, Karsenty G. Settembre C, et al. Among authors: ballabio a. Autophagy. 2009 Feb;5(2):228-9. doi: 10.4161/auto.5.2.7390. Epub 2009 Feb 13. Autophagy. 2009. PMID: 19029806 Free PMC article.

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