Ballabio A - Search Results

1

Multiple sulfatase deficiency with neonatal manifestation.

Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O. Garavelli L, et al. Among authors: ballabio a. Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2. Ital J Pediatr. 2014. PMID: 25516103 Free PMC article.

2

Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.

Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. Ballabio A, et al. Genomics. 1989 Jan;4(1):36-40. doi: 10.1016/0888-7543(89)90311-x. Genomics. 1989. PMID: 2644167 Clinical Trial.

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

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.

5

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.

6

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

7

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.

Zito E, Fraldi A, Pepe S, Annunziata I, Kobinger G, Di Natale P, Ballabio A, Cosma MP. Zito E, et al. Among authors: ballabio a. EMBO Rep. 2005 Jul;6(7):655-60. doi: 10.1038/sj.embor.7400454. EMBO Rep. 2005. PMID: 15962010 Free PMC article.

8

Sulfatases and human disease.

Diez-Roux G, Ballabio A. Diez-Roux G, et al. Among authors: ballabio a. Annu Rev Genomics Hum Genet. 2005;6:355-79. doi: 10.1146/annurev.genom.6.080604.162334. Annu Rev Genomics Hum Genet. 2005. PMID: 16124866 Review.

9

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.

Sardiello M, Annunziata I, Roma G, Ballabio A. Sardiello M, et al. Among authors: ballabio a. Hum Mol Genet. 2005 Nov 1;14(21):3203-17. doi: 10.1093/hmg/ddi351. Epub 2005 Sep 20. Hum Mol Genet. 2005. PMID: 16174644

10

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.

Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP. Cardone M, et al. Among authors: ballabio a. Hum Mol Genet. 2006 Apr 1;15(7):1225-36. doi: 10.1093/hmg/ddl038. Epub 2006 Feb 27. Hum Mol Genet. 2006. PMID: 16505002

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