Filocamo M - 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: filocamo m. Hum Mol Genet. 2018 Jul 1;27(13):2262-2275. doi: 10.1093/hmg/ddy131. Hum Mol Genet. 2018. PMID: 29648648

2

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.

Zancan I, Bellesso S, Costa R, Salvalaio M, Stroppiano M, Hammond C, Argenton F, Filocamo M, Moro E. Zancan I, et al. Among authors: filocamo m. Hum Mol Genet. 2015 Mar 1;24(5):1280-94. doi: 10.1093/hmg/ddu538. Epub 2014 Oct 17. Hum Mol Genet. 2015. PMID: 25326392

3

Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.

Costa R, Urbani A, Salvalaio M, Bellesso S, Cieri D, Zancan I, Filocamo M, Bonaldo P, Szabò I, Tomanin R, Moro E. Costa R, et al. Among authors: filocamo m. Hum Mol Genet. 2017 May 1;26(9):1643-1655. doi: 10.1093/hmg/ddx069. Hum Mol Genet. 2017. PMID: 28334757

4

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: filocamo m. Hum Mol Genet. 2018 Jul 1;27(13):2407. doi: 10.1093/hmg/ddy208. Hum Mol Genet. 2018. PMID: 29917101 No abstract available.

5

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: filocamo m. Hum Mol Genet. 2020 Jan 15;29(2):274-285. doi: 10.1093/hmg/ddz293. Hum Mol Genet. 2020. PMID: 31816052

6

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: filocamo m. 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

7

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. Among authors: filocamo m. Hum Mutat. 2005 May;25(5):491-7. doi: 10.1002/humu.20165. Hum Mutat. 2005. PMID: 15832315

8

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. Among authors: filocamo m. Hum Mutat. 2017 Jul;38(7):849-862. doi: 10.1002/humu.23243. Epub 2017 May 22. Hum Mutat. 2017. PMID: 28477385

9

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.

Filocamo M, Tomanin R, Bertola F, Morrone A. Filocamo M, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):129. doi: 10.1186/s13052-018-0553-2. Ital J Pediatr. 2018. PMID: 30442161 Free PMC article. Review.

10

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: filocamo m. 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

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