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

by Silvia Lombardi, Maria Francesca Testa, Mirko Pinotti, Alessio Branchini
Published 2020-12-01

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

by Dario Balestra, Iva Maestri, Alessio Branchini, Mattia Ferrarese, Francesco Bernardi, Mirko Pinotti
Published 2019-10-01

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 2016-05-01

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 2016-01-01

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

by Dario Balestra, Domenico Giorgio, Matteo Bizzotto, Maria Fazzari, Bruria Ben Zeev, Mirko Pinotti, Nicoletta Landsberger, Angelisa Frasca
Published 2019-08-01

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 2019-08-01

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 2016-01-01

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective <i>spf</i>/<i>ash</i> Mouse Model of Ornithine Transcarbamylase Deficiency

by Dario Balestra, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Alessio Branchini, Naomi Petersen, Piter Bosma, Mirko Pinotti, Stan F. J. van de Graaf
Published 2020-11-01

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I

by Dario Balestra, Daniela Scalet, Mattia Ferrarese, Silvia Lombardi, Nicole Ziliotto, Chrystal C. Croes, Naomi Petersen, Piter Bosma, Federico Riccardi, Franco Pagani, Mirko Pinotti, Stan F. J. van de Graaf
Published 2020-03-01

Combined effect of hemostatic gene polymorphisms and the risk of myocardial infarction in patients with advanced coronary atherosclerosis.

by Nicola Martinelli, Elisabetta Trabetti, Mirko Pinotti, Oliviero Olivieri, Marco Sandri, Simonetta Friso, Francesca Pizzolo, Claudia Bozzini, Pier Paolo Caruso, Ugo Cavallari, Suzanne Cheng, Pier Franco Pignatti, Francesco Bernardi, Roberto Corrocher, Domenico Girelli
Published 2008-01-01

A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients

by Giampaolo Morciano, Gaia Pedriali, Massimo Bonora, Rita Pavasini, Elisa Mikus, Simone Calvi, Matteo Bovolenta, Magdalena Lebiedzinska-Arciszewska, Mirko Pinotti, Alberto Albertini, Mariusz R. Wieckowski, Carlotta Giorgi, Roberto Ferrari, Lorenzo Galluzzi, Gianluca Campo, Paolo Pinton
Published 2021-04-01