Franco Pagani

Franco Pagani si è laureato in Medicina e Chirurgia nel 1985 e successivamente specializzato in Medicina Geriatrica presso l’Università di Milano; dal 2005 è responsabile del gruppo di Genetica Molecolare Umana presso il Centre for Genetic Engineering and Biotechnology (ICGEB) di Trieste.
La ricerca attuale del gruppo, relativamente alla fibrosi cistica, si concentra sulle implicazioni diagnostiche e terapeutiche dei difetti di splicing non canonici nei geni associati alla malattia, al fine di progettare strategie volte al trattamento di difetti di splicing.

• Amaral MD, Clarke LA, Ramalho AS et al. Quantitative methods for the analysis of CFTR transcripts/splicing variants. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23.
• Zuccato E, Buratti E, Stuani C et al. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J Biol Chem. 2004 Apr 23;279(17):16980-8. Epub 2004 Feb 13.
• Buratti E, Brindisi A, Pagani F, Baralle FE. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am J Hum Genet. 2004 Jun;74(6):1322-5.
• Pagani F, Raponi M, Baralle FE. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A, 2005 May 3;102(18):6368-72. Epub 2005 Apr 19.
• Ayala YM, Pagani F, Baralle FE. TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett, 2006 Feb 20;580(5):1339-44. Epub 2006 Jan 26.
• Raponi M, Baralle FE, Pagani F. Reduced splicing efficiency induced by synonymous substitutions may generate a substrate for natural selection of new splicing isoforms: the case of CFTR exon 12. Nucleic Acids Res, 2007;35(2):606-13. Epub 2006 Dec 15.
• Baralle M, Pastor T, Bussani E, Pagani F. Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing. Am J Hum Genet, 2008 Jul;83(1):77-88. doi: 10.1016/j.ajhg.2008.06.018.
• Pinotti M, Rizzotto L, Balestra D, et al. U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. Blood, 2008 Mar 1;111(5):2681-4. Epub 2007 Dec 21.
• Goina E, Skoko N, Pagani F. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol Cell Biol, 2008 Jun;28(11):3850-60. doi: 10.1128/MCB.02253-07. Epub 2008 Apr 7.
• Goina E, Fernandez-Alanis E, Pagani F. Approaches to study CFTR pre-mRNA splicing defects. Methods Mol Biol, 2011;741:155-69. doi: 10.1007/978-1-61779-117-8_11.
• Fernandez Alanis E, Pinotti M, Dal Mas A et al. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects. Hum Mol Genet, 2012 Jun 1;21(11):2389-98. doi: 10.1093/hmg/dds045. Epub 2012 Feb 23.