Research Groups

Franco Pagani

Human Molecular Genetics

Group Leader

Research Interests and Description
Group Members

Franco Pagani

International Centre for Genetic Engineering and Biotechnology
Padriciano 99
34149 Trieste, Italy

E-mail: paganiicgeb.org
Office tel: +39-040-3757342
Lab tel: +39-040-3757388
Office fax: +39-040-226555

Education

Faculty of Medicine, University of Milan, Italy, MD, 1985
Faculty of Medicine, University of Milan, Italy, Specialization in Geriatric Medicine, 1991

Career History

Since January 2005, Group Leader of the Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology (ICGEB), Trieste, Italy.
1994-2005, Assistant Research Scientist, ICGEB, Trieste.
1988-1994, Clinical Research Associate, Bioresearch, BASF-Group, Milan.
1986-1988, Research Scientist, Laboratory of Biochemistry and Molecular Biology, Rivetti Foundation, Milan.
1986, Visiting Scientist at the Sir W. Dunn School of Pathology, University of Oxford, England.

Teaching Activity

Tutoring activities in the ICGEB PhD Fellowship programme.

Scientific Activity

Main contribution to research is in the field of human molecular genetics of Cystic Fibrosis, Ataxia Telangiectasia and Lysosomal Acid Lipase Deficiency. Current research mainly focuses on diagnostic and therapeutic implications of non-canonical splicing defects in disease-associated genes, like CFTR, ATM and BRCA1. Genomic variants that unexpectedly cause aberrant splicing frequently represent a flag put over unknown regulatory splicing sequences. Thus, the study of aberrant splicing in human diseases provides an approach to unravel the basic mechanism of pre mRNA splicing and to design strategies aimed to the treatment of splicing defects.

Selected publications

Rogalska, M.E., Tajnik, M., Licastro, D., Bussani, E., Camparini, L., Mattioli, C., Pagani, F. 2016. Therapeutic activity of modified U1 core spliceosomal particles. Nat Commun, 7, 11168. PubMed Link

Tajnik, M., Rogalska, M.E., Bussani, E., Barbon, E., Balestra, D., Pinotti, M., Pagani, F. 2016. Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PLoS Genet, 12, e1006082. PubMed link

Rogalska, M.E., Tajnik, M., Licastro, D., Bussani, E., Camparini, L., Mattioli, C., Pagani, F. 2016. Therapeutic activity of modified U1 core spliceosomal particles. Nat Commun, 7, 11168. PubMed Link

Tajnik, M., Rogalska, M.E., Bussani, E., Barbon, E., Balestra, D., Pinotti, M., Pagani, F. 2016. Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. PLoS Genet, 12, e1006082. PubMed link

Dal Mas, A., Rogalska, M.E., Bussani, E., Pagani, F. 2015. Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA. Am J Hum Genet, 96, 93-103 PubMed link

Dal Mas, A., Fortugno, P., Donadon, I., Levati, L., Castiglia, D., Pagani, F. 2015. Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution That Affects a Bi-Functional Splicing Regulatory Element. Hum Mutat, 10.1002/humu.22762 PubMed link

Mattioli, C., Pianigiani, G., Pagani, F. 2014. Cross talk between spliceosome and microprocessor defines the fate of pre-mRNA. Wiley Interdiscip Rev RNA, 5, 647-658 PubMed link

Mattioli, C., Pianigiani, G., De Rocco, D., Bianco, A.M., Cappelli, E., Savoia, A., Pagani, F. 2014. Unusual splice site mutations disrupt FANCA exon 8 definition. Biochim Biophys Acta, 1842, 1052-1058 PubMed link

Fernandez Alanis, E.,  Pinotti, M., Dal Mas, A., Balestra, D., Cavallari, N., Rogalska, M.E., Bernardi, F., Pagani, F. 
2012. An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects. Hum Mol Genet 21, 2389-2398 PubMed link

Pastor, T., Pagani, F. 2011. Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-Derived Intronic Splicing Enhancer regulates ATM aberrant splicing. PLoS One 6, e23349 PubMed link

Pinotti, M., Bernardi, F.,  Dal Mas, A., Pagani, F. 2011. Rna-based therapeutic approaches for coagulation factor deficiencies. J Thromb Haemost 9, 2143-2152 PubMed link

Pastor, T., Dal Mas, A., Talotti, G., Bussani, E., Pagani, F. 2011. Intron cleavage affects processing of alternatively spliced transcripts. RNA 17, 1604-1613 PubMed link

Ferrera, L., Caputo, A., Ubby, I., Bussani, E., Zegarra-Moran, O., Ravazzolo, R., Pagani, F., Galietta, L.J. 2009. Regulation of TMEM16A chloride channel properties by alternative splicing. J Biol Chem, 284, 33360-33368 PubMed link

Pinotti, M., Balestra, D., Rizzotto, L., Maestri, I., Pagani, F., Bernardi, F. 2009. Rescue of coagulation factor VII function by the U1+5A snRNA. Blood 113, 6461-6464 PubMed link

Pastor, T., Talotti, G., Lewandowska, M.A., Pagani, F. 2009. An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM. Nucleic Acids Res, 37, 7258-7267 PubMed link

Crotti, L., Lewandowska, M.A., Schwartz, P.J., Insolia, R., Pedrazzini, M., Bussani, E., Dagradi, F., George, A.L., Pagani, F. 2009. A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm 6, 212-218 PubMed link

Goina, E., Skoko, N., Pagani, F. 2008. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant. Mol Cell Biol 28, 3850-3860 PubMed link

Gromak, N., Talotti, G., Proudfoot, N.J., Pagani, F. 2008. Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA. RNA 14, 359-366 PubMed link

Pinotti, M., Rizzotto, L., Balestra, D., Lewandowska, M.A., Cavallari, N., Marchetti, G., Bernardi, F., Pagani, F. 2008. U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency. Blood 111, 2681-2684 PubMed link

Giraud, M., Taubert, R., Vandiedonck, C., Ke, X., Levi-Strauss, M., Pagani, F., Baralle, F.E., Eymard, B., Tranchant, C., Gajdos, P., Vincent, A., Willcox, N., Beeson, D., Kyewski, B., Garchon, H.J. 2007. An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus. Nature 448, 934-937 PubMed link

Raponi, M., Baralle, F.E., Pagani, F. 2007. 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, 35, 606-613

Ayala, Y.M., Pagani, F., Baralle, F.E. 2006. TDP43 depletion rescues aberrant CFTR exon 9 skipping 3. FEBS Letters 580, 1339-1344

Lewandowska, M.A., Stuani, C., Parvizpur, A., Baralle, F.E., Pagani, F. 2005. Functional studies on the ATM intronic splicing processing element. Nucleic Acids Res. 33, 4007-4015

Pagani, F., Raponi, M., Baralle, F.E. 2005. Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc. Natl. Acad. Sci. USA 102, 6368-6372

Pagani, F., Baralle, F.E. 2004. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet. 5, 389-396.

Zuccato, E., Buratti, E., Stuani, C., Baralle, F.E., Pagani, F. 2004. An Intronic Polypyrimidine-rich Element Downstream of the Donor Site Modulates Cystic Fibrosis Transmembrane Conductance Regulator Exon 9 Alternative Splicing. J Biol Chem. 279, 16980-8.

Pagani, F., Buratti, E., Stuani, C., Bendix, R., Dork, T., Baralle, F.E. 2002. An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing. J. Biol. Chem. 279, 16980-16988

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Tel: +39-040-37571
Fax: +39-040-226555
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