Ballabio A - Search Results

1

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.

Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: ballabio a. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.

2

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Basler E, et al. Among authors: ballabio a. Am J Hum Genet. 1992 Mar;50(3):483-91. Am J Hum Genet. 1992. PMID: 1539590 Free PMC article.

3

The sulfatase gene family.

Parenti G, Meroni G, Ballabio A. Parenti G, et al. Among authors: ballabio a. Curr Opin Genet Dev. 1997 Jun;7(3):386-91. doi: 10.1016/s0959-437x(97)80153-0. Curr Opin Genet Dev. 1997. PMID: 9229115 Review.

4

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Daniele A, et al. Among authors: ballabio a. Am J Hum Genet. 1998 Mar;62(3):562-72. doi: 10.1086/301746. Am J Hum Genet. 1998. PMID: 9497243 Free PMC article.

5

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Among authors: ballabio a. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

6

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Among authors: ballabio a. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415

7

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cosma MP, Pepe S, Annunziata I, Newbold RF, Grompe M, Parenti G, Ballabio A. Cosma MP, et al. Among authors: ballabio a. Cell. 2003 May 16;113(4):445-56. doi: 10.1016/s0092-8674(03)00348-9. Cell. 2003. PMID: 12757706 Free article.

8

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Parenti G, et al. Among authors: ballabio a. Mol Ther. 2007 Mar;15(3):508-14. doi: 10.1038/sj.mt.6300074. Epub 2007 Jan 9. Mol Ther. 2007. PMID: 17213836 Free article.

9

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

10

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

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