F
Franco Pagani
Researcher at International Centre for Genetic Engineering and Biotechnology
Publications - 79
Citations - 5583
Franco Pagani is an academic researcher from International Centre for Genetic Engineering and Biotechnology. The author has contributed to research in topics: RNA splicing & Exon. The author has an hindex of 35, co-authored 78 publications receiving 5257 citations. Previous affiliations of Franco Pagani include French Institute of Health and Medical Research.
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Journal ArticleDOI
Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing
Loretta Ferrera,Antonella Caputo,Ifeoma Ubby,Erica Bussani,Olga Zegarra-Moran,Roberto Ravazzolo,Roberto Ravazzolo,Franco Pagani,Luis J. V. Galietta +8 more
TL;DR: Alternative splicing appears as an important mechanism to regulate the voltage and Ca2+ dependence of the TMEM16A-dependent Cl− channels in a tissue-specific manner.
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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
TL;DR: The results of this study strongly indicate that determination of the TG repeats may have a significant diagnostic value, and set up an in vitro splicing assay, to demonstrate that the UG–TDP-43 interaction plays a direct role in splicing.
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An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus
Matthieu Giraud,Richard Taubert,Claire Vandiedonck,Xiayi Ke,Matthieu Lévi-Strauss,Franco Pagani,Francisco E. Baralle,Bruno Eymard,Christine Tranchant,Philippe Gajdos,Angela Vincent,Nick Willcox,David Beeson,Bruno Kyewski,Henri Jean Garchon +14 more
TL;DR: A critical function of AIRE and the interferon signalling pathway is revealed in regulating quantitative expression of this auto-antigen in the thymus, suggesting that together they set the threshold for self-tolerance versus autoimmunity.
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Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element
Franco Pagani,Emanuele Buratti,Cristiana Stuani,Maurizio Romano,Elisabetta Zuccato,Martina Niksic,Luisella Giglio,D. Faraguna,Francisco E. Baralle +8 more
TL;DR: The comparative and functional analysis of the human and mouse CFTR genes showed that a region of about 150 nucleotides, present only in the human intron 9, mediates the exon 9 splicing inhibition in association with exonic regulatory elements.
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Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing
J A Byrne,Sandra Strautnieks,Gudrun Ihrke,Franco Pagani,A.S. Knisely,Kenneth J. Linton,Giorgina Mieli-Vergani,Richard J. Thompson +7 more
TL;DR: It is shown that aberrant pre‐mRNA splicing occurs in a considerable number of cases, leading to reduced levels of normal mRNA, and primary defects at either the protein or the mRNA level contribute significantly to BSEP deficiency.