Developed skills and lines of research
Franco Pagani graduated in Medicine and Surgery in 1985 and later specialized in Geriatric Medicine at the University of Milan. Since 2005, he has been the head of the Human Molecular Genetics group at the Centre for Genetic Engineering and Biotechnology (ICGEB) in Trieste.
The group’s current research on cystic fibrosis focuses on the diagnostic and therapeutic implications of non-canonical splicing defects in disease-associated genes, aiming to design strategies for treating splicing defects.
Projects funded by FFC Ricerca as Principal Investigator or as Research Manager
FFC#5/2014
An RNA based approach based on ExSpeU1 for correction of CFTR splicing defects: analysis of efficacy in primary bronchial cells
FFC#6/2012
CFTR splicing correction mediated by Exon-Specific U1 small nuclear RNAs (ExSpe U1)
FFC#9/2009
Molecular pathology of the pre-mRNA splicing machinery in cystic fibrosis: mechanistic aspects and therapeutic approaches
FFC #20/2007
Evaluation of disease causing mutations in CFTR co-transcriptional splicing units: diagnostic and therapeutic aspects
FFC #15/2005
Splicing affecting Genomic Variants in CFTR: Diagnostic and Therapeutic Aspects
FFC#5/2003
Molecular pathology of CFTR pre-mRNA splicing: diagnostic and therapeutic aspects
Publications from FFC Research projects
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.