Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies

por Balestra, Dario, Branchini, Alessio
Publicado 2019

Translucency of CAD/CAM and 3D Printable Composite Materials for Permanent Dental Restorations

por Vichi, Alessandro, Balestra, Dario, Scotti, Nicola, Louca, Chris, Paolone, Gaetano
Publicado 2023

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

Clinically Relevant Properties of 3D Printable Materials for Intraoral Use in Orthodontics: A Critical Review of the Literature

por Goracci, Cecilia, Juloski, Jovana, D’Amico, Claudio, Balestra, Dario, Volpe, Alessandra, Juloski, Jelena, Vichi, Alessandro
Publicado 2023

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

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

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

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

por Balestra, Dario, Ferrarese, Mattia, Lombardi, Silvia, Ziliotto, Nicole, Branchini, Alessio, Petersen, Naomi, Bosma, Piter, Pinotti, Mirko, van de Graaf, Stan F. J.
Publicado 2020

Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution

por Frasca, Angelisa, Pavlidou, Efterpi, Bizzotto, Matteo, Gao, Yunan, Balestra, Dario, Pinotti, Mirko, Dahl, Hans Atli, Mazarakis, Nicholas D., Landsberger, Nicoletta, Kinali, Maria
Publicado 2022

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies

por Sacchetto, Claudia, Peretto, Laura, Baralle, Francisco, Maestri, Iva, Tassi, Francesca, Bernardi, Francesco, van de Graaf, Stan F. J., Pagani, Franco, Pinotti, Mirko, Balestra, Dario
Publicado 2021

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

por 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.
Publicado 2020

C6orf10 Low-Frequency and Rare Variants in Italian Multiple Sclerosis Patients

por Ziliotto, Nicole, Marchetti, Giovanna, Scapoli, Chiara, Bovolenta, Matteo, Meneghetti, Silvia, Benazzo, Andrea, Lunghi, Barbara, Balestra, Dario, Laino, Lorenza Anna, Bozzini, Nicolò, Guidi, Irene, Salvi, Fabrizio, Straudi, Sofia, Gemmati, Donato, Menegatti, Erica, Zamboni, Paolo, Bernardi, Francesco
Publicado 2019