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
Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Emanuele Buratti,Thilo Dörk,Elisabetta Zuccato,Franco Pagani,Maurizio Romano,Maurizio Romano,Francisco E. Baralle +6 more
TL;DR: TDP‐43, a nuclear protein not previously described to bind RNA, is identified as the factor binding specifically to the (TG)m sequence, providing a new therapeutic target to correct aberrant splicing of exon 9 in CF patients.
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Genomic variants in exons and introns: identifying the splicing spoilers
TL;DR: An increasing amount of evidence indicates that genomic variants in both coding and non-coding sequences can have unexpected deleterious effects on the splicing of the gene transcript.
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Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
TL;DR: It is established that about one quarter of synonymous variations result in exon skipping and, hence, in an inactive CFTR protein, and that there are two sequential levels at which evolutionary selection of genomic variants take place: splicing control and protein function optimization.
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A new type of mutation causes a splicing defect in ATM.
Franco Pagani,Emanuele Buratti,Cristiana Stuani,Regina Bendix,Thilo Dörk,Francisco E. Baralle +5 more
TL;DR: Through analysis of the splicing defect using a hybrid minigene system, a new intron-splicing processing element (ISPE) complementary to U1 snRNA, the RNA component of the U1 small nuclear ribonucleoprotein (snRNP) mediates accurate intron processing and interacts specifically with U1SnRNP particles.
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New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
Franco Pagani,Cristiana Stuani,Maria Tzetis,Emmanuel Kanavakis,Alexandra Efthymiadou,Stavros Doudounakis,Teresa Casals,Francisco E. Baralle +7 more
TL;DR: The results indicate that even the most benign looking polymorphism in an exon cannot be ignored as it may affect the splicing process, and appropriate functional splicing assays should be included in genotype screenings to distinguish between polymorphisms and pathogenic mutations.