Search Results - Mirko Pinotti

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  1. 1

    Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation by Laura Peretto, Mirko Pinotti, Dario Balestra

    Published in Orphanet Journal of Rare Diseases (2026-04-01)
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  2. 2

    Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency by Barbara Lunghi, Mirko Pinotti, Iva Maestri, Angelika Batorova, Francesco Bernardi

    Published in Haematologica (2008-03-01)
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  3. 3

    Rescue of a panel of Hemophilia A-causing 5’ss splicing mutations by unique Exon-specific U1snRNA variants by Laura Peretto, Claudia D’angiolillo, Paolo Ferraresi, Dario Balestra, Mirko Pinotti

    Published in Molecular Medicine (2025-03-01)
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  4. 4

    An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants by Dario Balestra, Daniela Scalet, Franco Pagani, Malgorzata Ewa Rogalska, Rosella Mari, Francesco Bernardi, Mirko Pinotti

    Published in Molecular Therapy: Nucleic Acids (2016-01-01)
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  5. 5

    Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function. by Mojca Tajnik, Malgorzata Ewa Rogalska, Erica Bussani, Elena Barbon, Dario Balestra, Mirko Pinotti, Franco Pagani

    Published in PLoS Genetics (2016-05-01)
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  6. 6

    Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity by Irving Donadon, John H. McVey, Isabella Garagiola, Alessio Branchini, Mimosa Mortarino, Flora Peyvandi, Francesco Bernardi, Mirko Pinotti

    Published in Haematologica (2018-02-01)
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  7. 7

    The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII by Elisabeth Andersen, Maria Eugenia Chollet, Marcello Baroni, Mirko Pinotti, Francesco Bernardi, Ellen Skarpen, Per Morten Sandset, Grethe Skretting

    Published in Cell & Bioscience (2019-08-01)
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  8. 8

    Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics by Elena Barbon, Mattia Ferrarese, Laetitia van Wittenberghe, Peggy Sanatine, Giuseppe Ronzitti, Fanny Collaud, Pasqualina Colella, Mirko Pinotti, Federico Mingozzi

    Published in Molecular Therapy: Nucleic Acids (2016-01-01)
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  9. 9

    Translational readthrough at <i>F8</i> nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association by Maria Francesca Testa, Silvia Lombardi, Francesco Bernardi, Mattia Ferrarese, Donata Belvini, Paolo Radossi, Giancarlo Castaman, Mirko Pinotti, Alessio Branchini

    Published in Haematologica (2022-08-01)
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  10. 10

    Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency by Paolo Ferraresi, Dario Balestra, Caroline Guittard, Delphine Buthiau, Brigitte Pan-Petesh, Iva Maestri, Roula Farah, Mirko Pinotti, Muriel Giansily-Blaizot

    Published in Haematologica (2020-03-01)
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  11. 11

    Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency by Alessio Branchini, Lara Rizzotto, Guglielmo Mariani, Mariasanta Napolitano, Mario Lapecorella, Muriel Giansily-Blaizot, Rosella Mari, Alessandro Canella, Mirko Pinotti, Francesco Bernardi

    Published in Haematologica (2012-05-01)
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  12. 12

    Engineered tRNAs efficiently suppress CDKL5 premature termination codons by Stefano Pezzini, Aurora Mustaccia, Pierre Aboa, Giorgia Faustini, Alessio Branchini, Mirko Pinotti, Angelisa Frasca, Joseph J. Porter, John D. Lueck, Nicoletta Landsberger

    Published in Scientific Reports (2024-12-01)
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  13. 13

    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 by Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra

    Published in Molecular Medicine (2021-12-01)
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  14. 14

    Chronic sleep deprivation markedly reduces coagulation factor VII expression by Mirko Pinotti, Cristiano Bertolucci, Elena Frigato, Alessio Branchini, Nicola Cavallari, Kenkichi Baba, Susana Contreras-Alcantara, J. Christopher Ehlen, Francesco Bernardi, Ketema N. Paul, Gianluca Tosini

    Published in Haematologica (2010-08-01)
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  15. 15

    Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy by Rosella Famà, Ester Borroni, Simone Merlin, Chiara Airoldi, Silvia Pignani, Alessia Cucci, Davide Corà, Valentina Bruscaggin, Sharon Scardellato, Stefania Faletti, Giuliana Pelicci, Mirko Pinotti, Gillian E. Walker, Antonia Follenzi

    Published in Haematologica (2020-05-01)
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  16. 16

    Tailored collagen binding of albumin-fused hyperactive coagulation factor IX dictates in vivo distribution and functional properties by Kristin Hovden Aaen, Maria Francesca Testa, Jeannette Nilsen, Rebecca Tarantino, Cesare Canepari, Mascia Benedusi, Sopisa Benjakul, Mari Nyquist-Andersen, Marie Leangen Herigstad, Alessio Cantore, Giuseppe Valacchi, Inger Sandlie, Francesco Bernardi, Mirko Pinotti, Alessio Branchini, Jan Terje Andersen

    Published in Nature Communications (2025-09-01)
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