OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies Sacchetto, Claudia; Peretto, Laura; Baralle, Francisco; Maestri, Iva; Tassi, Francesca; Bernardi, Francesco; van de Graaf, Stan F. J.; Pagani, Franco; Pinotti, Mirko; Balestra, Dario dettagli >>	MOLECULAR MEDICINE Vol. 27, No. 1, pp: 157-1-157-12, Anno: 2021

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I Balestra, Dario; Scalet, Daniela; Ferrarese, Mattia; Lombardi, Silvia; Ziliotto, Nicole; C. Croes, Chrystal; Petersen, Naomi; Bosma, Piter; Riccardi, Federico; Pagani, Franco; Pinotti, Mirko; van de Graaf, Stan F. J. dettagli >>	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Vol. 21, No. 6, pp: 2136-1-2136-12, Anno: 2020

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Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model Donadon, Irving; Pinotti, Mirko; Rajkowska, Katarzyna; Pianigiani, Giulia; Barbon, Elena; Morini, Elisabetta; Motaln, Helena; Rogelj, Boris; Mingozzi, Federico; Slaugenhaupt, Susan A.; Pagani, Franco dettagli >>	HUMAN MOLECULAR GENETICS Vol. 27, No. 14, pp: 2466-2476, Anno: 2018

An exon-specific U1snRNA induces a robust factor IX activity in mice expressing multiple human FIX splicing mutants Balestra, Dario; Scalet, Daniela; Pagani, Franco; Rogalska, Malgorzata Ewa; Mari, Rosella; Bernardi, Francesco; Pinotti, Mirko dettagli >>	MOLECULAR THERAPY NUCLEIC ACIDS Vol. 5, No. 10, pp: e370-1-e370-7, Anno: 2016