Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
Testa, Maria Francesca, Lombardi, Silvia, Bernardi, Francesco, Ferrarese, Mattia, Belvini, Donata, Radossi, Paolo, Castaman, Giancarlo, Pinotti, Mirko, Branchini, Alessio
Published in Haematologica (Roma) (01.02.2023)
Published in Haematologica (Roma) (01.02.2023)
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Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
Peretto, Laura, Tonetto, Elena, Maestri, Iva, Bezzerri, Valentino, Valli, Roberto, Cipolli, Marco, Pinotti, Mirko, Balestra, Dario
Published in International journal of molecular sciences (16.02.2023)
Published in International journal of molecular sciences (16.02.2023)
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Journal Article
Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency
Ferraresi, Paolo, Balestra, Dario, Guittard, Caroline, Buthiau, Delphine, Pan-Petesh, Brigitte, Maestri, Iva, Farah, Roula, Pinotti, Mirko, Giansily-Blaizot, Muriel
Published in Haematologica (Roma) (01.03.2020)
Published in Haematologica (Roma) (01.03.2020)
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Journal Article
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity
Donadon, Irving, McVey, John H, Garagiola, Isabella, Branchini, Alessio, Mortarino, Mimosa, Peyvandi, Flora, Bernardi, Francesco, Pinotti, Mirko
Published in Haematologica (Roma) (01.02.2018)
Published in Haematologica (Roma) (01.02.2018)
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Journal Article
Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy
Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Published in International journal of molecular sciences (24.08.2019)
Published in International journal of molecular sciences (24.08.2019)
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Journal Article
Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Tajnik, Mojca, Rogalska, Malgorzata Ewa, Bussani, Erica, Barbon, Elena, Balestra, Dario, Pinotti, Mirko, Pagani, Franco
Published in PLoS genetics (26.05.2016)
Published in PLoS genetics (26.05.2016)
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Journal Article
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction
Lunghi, Barbara, Ziliotto, Nicole, Balestra, Dario, Rossi, Lucrezia, Della Valle, Patrizia, Pignatelli, Pasquale, Pinotti, Mirko, D’Angelo, Armando, Marchetti, Giovanna, Bernardi, Francesco
Published in International journal of molecular sciences (01.09.2023)
Published in International journal of molecular sciences (01.09.2023)
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Journal Article
A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients
Morciano, Giampaolo, Pedriali, Gaia, Bonora, Massimo, Pavasini, Rita, Mikus, Elisa, Calvi, Simone, Bovolenta, Matteo, Lebiedzinska-Arciszewska, Magdalena, Pinotti, Mirko, Albertini, Alberto, Wieckowski, Mariusz R., Giorgi, Carlotta, Ferrari, Roberto, Galluzzi, Lorenzo, Campo, Gianluca, Pinton, Paolo
Published in Cell reports (Cambridge) (13.04.2021)
Published in Cell reports (Cambridge) (13.04.2021)
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Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy
Famà, Rosella, Borroni, Ester, Merlin, Simone, Airoldi, Chiara, Pignani, Silvia, Cucci, Alessia, Corà, Davide, Bruscaggin, Valentina, Scardellato, Sharon, Faletti, Stefania, Pelicci, Giuliana, Pinotti, Mirko, Walker, Gillian E, Follenzi, Antonia
Published in Haematologica (Roma) (01.06.2021)
Published in Haematologica (Roma) (01.06.2021)
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Journal Article
1,3,8-Triazaspiro[4.5]decane Derivatives Inhibit Permeability Transition Pores through a FO-ATP Synthase c Subunit Glu119-Independent Mechanism That Prevents Oligomycin A-Related Side Effects
Pedriali, Gaia, Ramaccini, Daniela, Bouhamida, Esmaa, Branchini, Alessio, Turrin, Giulia, Tonet, Elisabetta, Scala, Antonella, Patergnani, Simone, Pinotti, Mirko, Trapella, Claudio, Giorgi, Carlotta, Tremoli, Elena, Campo, Gianluca, Morciano, Giampaolo, Pinton, Paolo
Published in International journal of molecular sciences (24.03.2023)
Published in International journal of molecular sciences (24.03.2023)
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Journal Article
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
FERNANDEZ ALANIS, Eugenio, PINOTTI, Mirko, DAL MAS, Andrea, BALESTRA, Dario, CAVALLARI, Nicola, ROGALSKA, Malgorzata E, BERNARDI, Francesco, PAGAN, Franco
Published in Human molecular genetics (01.06.2012)
Published in Human molecular genetics (01.06.2012)
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Journal Article
Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy
Scalet, Daniela, Balestra, Dario, Rohban, Sara, Bovolenta, Matteo, Perrone, Daniela, Bernardi, Francesco, Campaner, Stefano, Pinotti, Mirko
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
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Journal Article
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
Published in Molecular medicine (Cambridge, Mass.) (14.12.2021)
Published in Molecular medicine (Cambridge, Mass.) (14.12.2021)
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Journal Article
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A
Balestra, Dario, Maestri, Iva, Branchini, Alessio, Ferrarese, Mattia, Bernardi, Francesco, Pinotti, Mirko
Published in Frontiers in genetics (10.10.2019)
Published in Frontiers in genetics (10.10.2019)
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Journal Article
An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf / ash Mouse Model of Ornithine Transcarbamylase Deficiency
Balestra, Dario, Ferrarese, Mattia, Lombardi, Silvia, Ziliotto, Nicole, Branchini, Alessio, Petersen, Naomi, Bosma, Piter, Pinotti, Mirko, van de Graaf, Stan F J
Published in International journal of molecular sciences (19.11.2020)
Published in International journal of molecular sciences (19.11.2020)
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Journal Article
Tailoring the CRISPR system to transactivate coagulation gene promoters in normal and mutated contexts
Pignani, Silvia, Zappaterra, Federico, Barbon, Elena, Follenzi, Antonia, Bovolenta, Matteo, Bernardi, Francesco, Branchini, Alessio, Pinotti, Mirko
Published in Biochimica et biophysica acta. Gene regulatory mechanisms (01.06.2019)
Published in Biochimica et biophysica acta. Gene regulatory mechanisms (01.06.2019)
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Journal Article
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
Published in International journal of molecular sciences (20.03.2020)
Published in International journal of molecular sciences (20.03.2020)
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Journal Article
The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction
Scalet, Daniela, Sacchetto, Claudia, Bernardi, Francesco, Pinotti, Mirko, van de Graaf, Stan F J, Balestra, Dario
Published in Journal of human genetics (01.05.2018)
Published in Journal of human genetics (01.05.2018)
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Journal Article
The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII
Andersen, Elisabeth, Chollet, Maria Eugenia, Baroni, Marcello, Pinotti, Mirko, Bernardi, Francesco, Skarpen, Ellen, Sandset, Per Morten, Skretting, Grethe
Published in Cell & bioscience (27.08.2019)
Published in Cell & bioscience (27.08.2019)
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