Pagani F - Search Results

1

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.

Vezain M, Saugier-Veber P, Goina E, Touraine R, Manel V, Toutain A, Fehrenbach S, Frébourg T, Pagani F, Tosi M, Martins A. Vezain M, et al. Among authors: pagani f. Hum Mutat. 2010 Jan;31(1):E1110-25. doi: 10.1002/humu.21173. Hum Mutat. 2010. PMID: 19953646

2

Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.

Goina E, Skoko N, Pagani F. Goina E, et al. Among authors: pagani f. Mol Cell Biol. 2008 Jun;28(11):3850-60. doi: 10.1128/MCB.02253-07. Epub 2008 Apr 7. Mol Cell Biol. 2008. PMID: 18391021 Free PMC article.

3

Approaches to study CFTR pre-mRNA splicing defects.

Goina E, Fernandez-Alanis E, Pagani F. Goina E, et al. Among authors: pagani f. Methods Mol Biol. 2011;741:155-69. doi: 10.1007/978-1-61779-117-8_11. Methods Mol Biol. 2011. PMID: 21594784

4

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.

Dal Mas A, Fortugno P, Donadon I, Levati L, Castiglia D, Pagani F. Dal Mas A, et al. Among authors: pagani f. Hum Mutat. 2015 May;36(5):504-12. doi: 10.1002/humu.22762. Epub 2015 Mar 19. Hum Mutat. 2015. PMID: 25665175

5

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F. Fernandez Alanis E, et al. Among authors: pagani f. Hum Mol Genet. 2012 Jun 1;21(11):2389-98. doi: 10.1093/hmg/dds045. Epub 2012 Feb 23. Hum Mol Genet. 2012. PMID: 22362925 Free PMC article.

6

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

Dal Mas A, Rogalska ME, Bussani E, Pagani F. Dal Mas A, et al. Among authors: pagani f. Am J Hum Genet. 2015 Jan 8;96(1):93-103. doi: 10.1016/j.ajhg.2014.12.009. Epub 2014 Dec 31. Am J Hum Genet. 2015. PMID: 25557785 Free PMC article.

7

Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA.

Donadon I, Bussani E, Riccardi F, Licastro D, Romano G, Pianigiani G, Pinotti M, Konstantinova P, Evers M, Lin S, Rüegg MA, Pagani F. Donadon I, et al. Among authors: pagani f. Nucleic Acids Res. 2019 Aug 22;47(14):7618-7632. doi: 10.1093/nar/gkz469. Nucleic Acids Res. 2019. PMID: 31127278 Free PMC article.

8

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F. Amaral MD, et al. Among authors: pagani f. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.

9

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J. Tanner G, et al. Among authors: pagani f. Hum Mutat. 2009 Feb;30(2):255-63. doi: 10.1002/humu.20861. Hum Mutat. 2009. PMID: 18837008

10

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches.

Nizzardo M, Simone C, Dametti S, Salani S, Ulzi G, Pagliarani S, Rizzo F, Frattini E, Pagani F, Bresolin N, Comi G, Corti S. Nizzardo M, et al. Among authors: pagani f. Sci Rep. 2015 Jun 30;5:11746. doi: 10.1038/srep11746. Sci Rep. 2015. PMID: 26123042 Free PMC article.

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