Ballabio A - Search Results

1

A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome.

Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, Monfregola J, Calcagnì A, Di Fiore PP, Huber LA, Ballabio A. Napolitano G, et al. Among authors: ballabio a. Nature. 2020 Sep;585(7826):597-602. doi: 10.1038/s41586-020-2444-0. Epub 2020 Jul 1. Nature. 2020. PMID: 32612235 Free PMC article.

2

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.

3

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.

4

A gene network regulating lysosomal biogenesis and function.

Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. Sardiello M, et al. Among authors: ballabio a. Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25. Science. 2009. PMID: 19556463

5

Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder.

Spampanato C, De Leonibus E, Dama P, Gargiulo A, Fraldi A, Sorrentino NC, Russo F, Nusco E, Auricchio A, Surace EM, Ballabio A. Spampanato C, et al. Among authors: ballabio a. Mol Ther. 2011 May;19(5):860-9. doi: 10.1038/mt.2010.299. Epub 2011 Feb 15. Mol Ther. 2011. PMID: 21326216 Free PMC article.

6

TFEB links autophagy to lysosomal biogenesis.

Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. Settembre C, et al. Among authors: ballabio a. Science. 2011 Jun 17;332(6036):1429-33. doi: 10.1126/science.1204592. Epub 2011 May 26. Science. 2011. PMID: 21617040 Free PMC article.

7

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.

Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A. Palmieri M, et al. Among authors: ballabio a. Hum Mol Genet. 2011 Oct 1;20(19):3852-66. doi: 10.1093/hmg/ddr306. Epub 2011 Jul 13. Hum Mol Genet. 2011. PMID: 21752829

8

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases.

de Pablo-Latorre R, Saide A, Polishhuck EV, Nusco E, Fraldi A, Ballabio A. de Pablo-Latorre R, et al. Among authors: ballabio a. Hum Mol Genet. 2012 Apr 15;21(8):1770-81. doi: 10.1093/hmg/ddr610. Epub 2012 Jan 3. Hum Mol Genet. 2012. PMID: 22215441 Free PMC article.

9

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB.

Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. Settembre C, et al. Among authors: ballabio a. EMBO J. 2012 Mar 7;31(5):1095-108. doi: 10.1038/emboj.2012.32. Epub 2012 Feb 17. EMBO J. 2012. PMID: 22343943 Free PMC article.

10

Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder.

Di Malta C, Fryer JD, Settembre C, Ballabio A. Di Malta C, et al. Among authors: ballabio a. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):E2334-42. doi: 10.1073/pnas.1209577109. Epub 2012 Jul 23. Proc Natl Acad Sci U S A. 2012. PMID: 22826245 Free PMC article.

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