Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches

por Lombardi, Silvia, Testa, Maria Francesca, Pinotti, Mirko, Branchini, Alessio
Publicado 2020

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes

por Barbon, Elena, Pignani, Silvia, Branchini, Alessio, Bernardi, Francesco, Pinotti, Mirko, Bovolenta, Matteo
Publicado 2016

An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

por Balestra, Dario, Maestri, Iva, Branchini, Alessio, Ferrarese, Mattia, Bernardi, Francesco, Pinotti, Mirko
Publicado 2019

Mcl-1 involvement in mitochondrial dynamics is associated with apoptotic cell death

por Morciano, Giampaolo, Giorgi, Carlotta, Balestra, Dario, Marchi, Saverio, Perrone, Daniela, Pinotti, Mirko, Pinton, Paolo
Publicado 2016

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

por Tajnik, Mojca, Rogalska, Malgorzata Ewa, Bussani, Erica, Barbon, Elena, Balestra, Dario, Pinotti, Mirko, Pagani, Franco
Publicado 2016

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

por Balestra, Dario, Scalet, Daniela, Pagani, Franco, Rogalska, Malgorzata Ewa, Mari, Rosella, Bernardi, Francesco, Pinotti, Mirko
Publicado 2016

Regulation of a strong F9 cryptic 5′ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

por Balestra, Dario, Barbon, Elena, Scalet, Daniela, Cavallari, Nicola, Perrone, Daniela, Zanibellato, Silvia, Bernardi, Francesco, Pinotti, Mirko
Publicado 2015

The Somatic FAH c.1061C>A Change Counteracts the Frequent FAH c.1062+5G>A Mutation and Permits U1snRNA-Based Splicing Correction

por Scalet, Daniela, Sacchetto, Claudia, Bernardi, Francesco, Pinotti, Mirko, van de Graaf, Stan F.J., Balestra, Dario
Publicado 2018

Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

por Peretto, Laura, Tonetto, Elena, Maestri, Iva, Bezzerri, Valentino, Valli, Roberto, Cipolli, Marco, Pinotti, Mirko, Balestra, Dario
Publicado 2023

Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy

por Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Publicado 2019

Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

por Branchini, Alessio, Campioni, Matteo, Mazzucconi, Maria Gabriella, Biondo, Francesca, Mari, Rosella, Bicocchi, Maria Patrizia, Bernardi, Francesco, Pinotti, Mirko
Publicado 2013

Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity

por Donadon, Irving, McVey, John H., Garagiola, Isabella, Branchini, Alessio, Mortarino, Mimosa, Peyvandi, Flora, Bernardi, Francesco, Pinotti, Mirko
Publicado 2018

The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII

por Andersen, Elisabeth, Chollet, Maria Eugenia, Baroni, Marcello, Pinotti, Mirko, Bernardi, Francesco, Skarpen, Ellen, Sandset, Per Morten, Skretting, Grethe
Publicado 2019

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

por Fernandez Alanis, Eugenio, Pinotti, Mirko, Dal Mas, Andrea, Balestra, Dario, Cavallari, Nicola, Rogalska, Malgorzata E., Bernardi, Francesco, Pagani, Franco
Publicado 2012

Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics

por Barbon, Elena, Ferrarese, Mattia, van Wittenberghe, Laetitia, Sanatine, Peggy, Ronzitti, Giuseppe, Collaud, Fanny, Colella, Pasqualina, Pinotti, Mirko, Mingozzi, Federico
Publicado 2016

Fusion of engineered albumin with factor IX Padua extends half‐life and improves coagulant activity

por Lombardi, Silvia, Aaen, Kristin H., Nilsen, Jeannette, Ferrarese, Mattia, Gjølberg, Torleif T., Bernardi, Francesco, Pinotti, Mirko, Andersen, Jan T., Branchini, Alessio
Publicado 2021

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association

por Testa, Maria Francesca, Lombardi, Silvia, Bernardi, Francesco, Ferrarese, Mattia, Belvini, Donata, Radossi, Paolo, Castaman, Giancarlo, Pinotti, Mirko, Branchini, Alessio
Publicado 2022

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

por Cavallari, Nicola, Balestra, Dario, Branchini, Alessio, Maestri, Iva, Chuamsunrit, Ampaiwan, Sasanakul, Werasak, Mariani, Guglielmo, Pagani, Franco, Bernardi, Francesco, Pinotti, Mirko
Publicado 2012

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

por Ferraresi, Paolo, Balestra, Dario, Guittard, Caroline, Buthiau, Delphine, Pan-Petesh, Brigitte, Maestri, Iva, Farah, Roula, Pinotti, Mirko, Giansily-Blaizot, Muriel
Publicado 2020

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Pro...

por Lunghi, Barbara, Ziliotto, Nicole, Balestra, Dario, Rossi, Lucrezia, Della Valle, Patrizia, Pignatelli, Pasquale, Pinotti, Mirko, D’Angelo, Armando, Marchetti, Giovanna, Bernardi, Francesco
Publicado 2023