Ballabio A - Search Results

1

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop.

Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. Settembre C, et al. Among authors: ballabio a. Nat Cell Biol. 2013 Jun;15(6):647-58. doi: 10.1038/ncb2718. Epub 2013 Apr 21. Nat Cell Biol. 2013. PMID: 23604321 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

The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis.

Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V. Vetrini F, et al. Among authors: ballabio a. Mol Cell Biol. 2004 Aug;24(15):6550-9. doi: 10.1128/MCB.24.15.6550-6559.2004. Mol Cell Biol. 2004. PMID: 15254223 Free PMC article.

4

DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes.

Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A, Banfi S. Boccia A, et al. Among authors: ballabio a. Nucleic Acids Res. 2005 Jan 1;33(Database issue):D505-10. doi: 10.1093/nar/gki011. Nucleic Acids Res. 2005. PMID: 15608249 Free PMC article.

5

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Vetrini F, et al. Among authors: ballabio a. Hum Mutat. 2006 May;27(5):420-6. doi: 10.1002/humu.20303. Hum Mutat. 2006. PMID: 16550551

6

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.

7

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.

8

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.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

454 results

Search Page