Lualdi S - Search Results

1

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E. Bellesso S, et al. Among authors: lualdi s. Hum Mol Genet. 2018 Jul 1;27(13):2262-2275. doi: 10.1093/hmg/ddy131. Hum Mol Genet. 2018. PMID: 29648648

2

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E. Bellesso S, et al. Among authors: lualdi s. Hum Mol Genet. 2018 Jul 1;27(13):2407. doi: 10.1093/hmg/ddy208. Hum Mol Genet. 2018. PMID: 29917101 No abstract available.

3

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

Costa R, Bellesso S, Lualdi S, Manzoli R, Pistorio V, Filocamo M, Moro E. Costa R, et al. Among authors: lualdi s. Hum Mol Genet. 2020 Jan 15;29(2):274-285. doi: 10.1093/hmg/ddz293. Hum Mol Genet. 2020. PMID: 31816052

4

Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation.

Lonardo F, Di Natale P, Lualdi S, Acquaviva F, Cuoco C, Scarano F, Maioli M, Pavone LM, Di Gregorio G, Filocamo M, Scarano G. Lonardo F, et al. Among authors: lualdi s. Am J Med Genet A. 2014 Oct;164A(10):2627-32. doi: 10.1002/ajmg.a.36667. Epub 2014 Jul 8. Am J Med Genet A. 2014. PMID: 25044788

5

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.

Lualdi S, Regis S, Di Rocco M, Corsolini F, Stroppiano M, Antuzzi D, Filocamo M. Lualdi S, et al. Hum Mutat. 2005 May;25(5):491-7. doi: 10.1002/humu.20165. Hum Mutat. 2005. PMID: 15832315

6

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R. Zanetti A, et al. Among authors: lualdi s. Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26. Eur J Pediatr. 2019. PMID: 30809705 Free PMC article. Clinical Trial.

7

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs.

Lualdi S, Del Zotto G, Zegarra-Moran O, Pedemonte N, Corsolini F, Bruschi M, Tomati V, Amico G, Candiano G, Dardis A, Cooper DN, Filocamo M. Lualdi S, et al. Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22. Hum Mutat. 2017. PMID: 28477385

8

Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.

Lualdi S, Pittis MG, Regis S, Parini R, Allegri AE, Furlan F, Bembi B, Filocamo M. Lualdi S, et al. J Mol Med (Berl). 2006 Aug;84(8):692-700. doi: 10.1007/s00109-006-0057-1. Epub 2006 May 13. J Mol Med (Berl). 2006. PMID: 16699754

9

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Regis S, Lualdi S, Biffi A, Sessa M, Corsolini F, Parenti G, Filocamo M. Regis S, et al. Among authors: lualdi s. Mol Genet Metab. 2006 Sep-Oct;89(1-2):150-5. doi: 10.1016/j.ymgme.2006.03.016. Epub 2006 Jun 19. Mol Genet Metab. 2006. PMID: 16782379

10

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Lualdi S, Tappino B, Di Duca M, Dardis A, Anderson CJ, Biassoni R, Thompson PW, Corsolini F, Di Rocco M, Bembi B, Regis S, Cooper DN, Filocamo M. Lualdi S, et al. Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208. Hum Mutat. 2010. PMID: 20104590

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