Franco Pagani

Franco Pagani

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Franco Pagani

Franco Pagani

Publications by authors named "Franco Pagani"

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

Nucleic Acids Res 2019 08;47(14):7618-7632

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkz469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698663PMC
August 2019

Microprocessor-dependent processing of splice site overlapping microRNA exons does not result in changes in alternative splicing.

RNA 2018 09 12;24(9):1158-1171. Epub 2018 Jun 12.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, 34149 Trieste, Italy.

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http://dx.doi.org/10.1261/rna.063438.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097652PMC
September 2018

Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators.

Exp Dermatol 2018 06;27(6):656-662

MTA-SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1111/exd.13530DOI Listing
June 2018

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

Mol Ther Nucleic Acids 2016 Oct 4;5(10):e370. Epub 2016 Oct 4.

Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy.

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http://dx.doi.org/10.1038/mtna.2016.77DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095682PMC
October 2016

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

PLoS Genet 2016 05 26;12(5):e1006082. Epub 2016 May 26.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1371/journal.pgen.1006082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4882169PMC
May 2016

Therapeutic activity of modified U1 core spliceosomal particles.

Nat Commun 2016 Apr 4;7:11168. Epub 2016 Apr 4.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149 Trieste, Italy.

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http://dx.doi.org/10.1038/ncomms11168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822034PMC
April 2016

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

Sci Rep 2015 Jun 30;5:11746. Epub 2015 Jun 30.

Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1038/srep11746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4485234PMC
June 2015

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

Hum Mutat 2015 May 19;36(5):504-12. Epub 2015 Mar 19.

International Centre for Genetic Engineering and Biotechnology (ICGEB), Human Molecular Genetics, Trieste, Italy.

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http://dx.doi.org/10.1002/humu.22762DOI Listing
May 2015

Cross talk between spliceosome and microprocessor defines the fate of pre-mRNA.

Wiley Interdiscip Rev RNA 2014 Sep-Oct;5(5):647-58. Epub 2014 Apr 30.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1002/wrna.1236DOI Listing
April 2015

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

Hepatology 2015 Apr 23;61(4):1382-91. Epub 2015 Feb 23.

Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, Amsterdam, The Netherlands; Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/hep.27620DOI Listing
April 2015

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

Am J Hum Genet 2015 Jan 31;96(1):93-103. Epub 2014 Dec 31.

Human Molecular Genetics Laboratory, International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34149 Trieste, Italy. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00515-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400515
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http://dx.doi.org/10.1016/j.ajhg.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4289686PMC
January 2015

Unusual splice site mutations disrupt FANCA exon 8 definition.

Biochim Biophys Acta 2014 Jul 1;1842(7):1052-8. Epub 2014 Apr 1.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology Trieste, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2014.03.014DOI Listing
July 2014

A competitive regulatory mechanism discriminates between juxtaposed splice sites and pri-miRNA structures.

Nucleic Acids Res 2013 Oct 17;41(18):8680-91. Epub 2013 Jul 17.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34149, Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkt614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794580PMC
October 2013

TMEM16A alternative splicing coordination in breast cancer.

Mol Cancer 2013 Jul 16;12:75. Epub 2013 Jul 16.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1186/1476-4598-12-75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3728142PMC
July 2013

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

Hum Mol Genet 2012 Jun 23;21(11):2389-98. Epub 2012 Feb 23.

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/dds045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349419PMC
June 2012

Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.

PLoS One 2011 8;6(8):e23349. Epub 2011 Aug 8.

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023349PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3152568PMC
February 2012

Approaches to study CFTR pre-mRNA splicing defects.

Methods Mol Biol 2011 ;741:155-69

Human Molecular Genetics, International Centre for Genetic Engineering and Biotechnology, 34149, Trieste, Italy.

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http://dx.doi.org/10.1007/978-1-61779-117-8_11DOI Listing
September 2011

Intron cleavage affects processing of alternatively spliced transcripts.

RNA 2011 Aug 14;17(8):1604-13. Epub 2011 Jun 14.

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

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http://dx.doi.org/10.1261/rna.2514811DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3153982PMC
August 2011

CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.

Nucleic Acids Res 2010 Nov 14;38(20):7273-85. Epub 2010 Jul 14.

Inserm U613-ECLA Team, Faculty of Medicine, 22 Avenue Camille Desmoulins, 29238 Brest Cedex 3, France.

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http://dx.doi.org/10.1093/nar/gkq573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978352PMC
November 2010

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Clin Cancer Res 2010 Mar 9;16(6):1957-67. Epub 2010 Mar 9.

Grupo de Genetica del Cancer, Instituto de Biologia y Genetica Molecular, Consejo Superior de Investigaciones Cientificas-Universidad de Valladolid, Valladolid, Spain.

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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-09-2564DOI Listing
March 2010

Regulation of TMEM16A chloride channel properties by alternative splicing.

J Biol Chem 2009 Nov 9;284(48):33360-8. Epub 2009 Oct 9.

Laboratory of Molecular Genetics, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova.

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http://dx.doi.org/10.1074/jbc.M109.046607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785179PMC
November 2009

Rescue of coagulation factor VII function by the U1+5A snRNA.

Blood 2009 Jun 22;113(25):6461-4. Epub 2009 Apr 22.

Department of Biochemistry, University of Ferrara, Italy.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2009-03-20
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http://dx.doi.org/10.1182/blood-2009-03-207613DOI Listing
June 2009

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

Hum Mutat 2009 Feb;30(2):255-63

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland.

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http://dx.doi.org/10.1002/humu.20861DOI Listing
February 2009

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome.

Heart Rhythm 2009 Feb 6;6(2):212-8. Epub 2008 Nov 6.

Department of Cardiology, University of Pavia, and IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy.

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http://dx.doi.org/10.1016/j.hrthm.2008.10.044DOI Listing
February 2009

Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processing.

Am J Hum Genet 2008 Jul;83(1):77-88

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1016/j.ajhg.2008.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443835PMC
July 2008

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

Mol Cell Biol 2008 Jun 7;28(11):3850-60. Epub 2008 Apr 7.

International Center for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy.

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http://dx.doi.org/10.1128/MCB.02253-07DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2423284PMC
June 2008

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency.

Blood 2008 Mar 21;111(5):2681-4. Epub 2007 Dec 21.

Department of Biochemistry and Molecular Biology, University of Ferrara, Via Fossato di Mortara 74, Ferrara, Italy.

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http://dx.doi.org/10.1182/blood-2007-10-117440DOI Listing
March 2008

Modulating alternative splicing by cotranscriptional cleavage of nascent intronic RNA.

RNA 2008 Feb 7;14(2):359-66. Epub 2007 Dec 7.

Sir William Dunn School of Pathology, University of Oxford, Oxford, OX1 3RE, United Kingdom.

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http://dx.doi.org/10.1261/rna.615508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2212250PMC
February 2008

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 15;35(2):606-13. Epub 2006 Dec 15.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy.

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http://dx.doi.org/10.1093/nar/gkl1087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1802620PMC
March 2007

TDP43 depletion rescues aberrant CFTR exon 9 skipping.

FEBS Lett 2006 Feb 26;580(5):1339-44. Epub 2006 Jan 26.

Department of Molecular Pathology, International Centre for Genetic Engineering and Biotechnology (ICGEB), Padriciano 99, 34012 Trieste, Italy.

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http://dx.doi.org/10.1016/j.febslet.2006.01.052DOI Listing
February 2006

Functional studies on the ATM intronic splicing processing element.

Nucleic Acids Res 2005 19;33(13):4007-15. Epub 2005 Jul 19.

International Centre for Genetic Engineering and Biotechnology Padriciano 99, 34012 Trieste, Italy.

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https://nar.oxfordjournals.org/content/33/13/4007.full-text-
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http://nar.oxfordjournals.org/lookup/doi/10.1093/nar/gki710
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http://dx.doi.org/10.1093/nar/gki710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1178006PMC
July 2005

Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution.

Proc Natl Acad Sci U S A 2005 May 19;102(18):6368-72. Epub 2005 Apr 19.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, 34012 Trieste, Italy.

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http://dx.doi.org/10.1073/pnas.0502288102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1088389PMC
May 2005

Genomic variants in exons and introns: identifying the splicing spoilers.

Nat Rev Genet 2004 May;5(5):389-96

International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://www.nature.com/articles/nrg1327
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http://dx.doi.org/10.1038/nrg1327DOI Listing
May 2004

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 13;279(17):16980-8. Epub 2004 Feb 13.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1074/jbc.M313439200DOI Listing
April 2004

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

J Biol Chem 2003 Jul 5;278(29):26580-8. Epub 2003 May 5.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1074/jbc.M212813200DOI Listing
July 2003

Can a 'patch' in a skipped exon make the pre-mRNA splicing machine run better?

Trends Mol Med 2003 Jun;9(6):229-32; discussion 233-4

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1016/s1471-4914(03)00072-8DOI Listing
June 2003

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

Hum Mol Genet 2003 May;12(10):1111-20

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1093/hmg/ddg131DOI Listing
May 2003

Promoter architecture modulates CFTR exon 9 skipping.

J Biol Chem 2003 Jan 5;278(3):1511-7. Epub 2002 Nov 5.

International Centre for Genetic Engineering and Biotechnology, Padriciano 99, Trieste 34012, Italy.

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http://dx.doi.org/10.1074/jbc.M209676200DOI Listing
January 2003

A new type of mutation causes a splicing defect in ATM.

Nat Genet 2002 Apr 11;30(4):426-9. Epub 2002 Mar 11.

Molecular Pathology, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy.

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http://dx.doi.org/10.1038/ng858DOI Listing
April 2002