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

Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair

por Izmiryan, Araksya, Ganier, Clarisse, Bovolenta, Matteo, Schmitt, Alain, Mavilio, Fulvio, Hovnanian, Alain
Publicado 2018

Antisense Oligonucleotides Conjugated with Lipophilic Compounds: Synthesis and In Vitro Evaluation of Exon Skipping in Duchenne Muscular Dystrophy

por Marchesi, Elena, Cortesi, Rita, Preti, Lorenzo, Rimessi, Paola, Sguizzato, Maddalena, Bovolenta, Matteo, Perrone, Daniela
Publicado 2022

Synthesis and Exon-Skipping Properties of a 3′-Ursodeoxycholic Acid-Conjugated Oligonucleotide Targeting DMD Pre-mRNA: Pre-Synthetic versus Post-Synthetic Approach

por Marchesi, Elena, Bovolenta, Matteo, Preti, Lorenzo, Capobianco, Massimo L., Mamchaoui, Kamel, Bertoldo, Monica, Perrone, Daniela
Publicado 2021

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

por Ferlini, Alessandra, Bovolenta, Matteo, Neri, Marcella, Gualandi, Francesca, Balboni, Alessandra, Yuryev, Anton, Salvi, Fabrizio, Gemmati, Donato, Liboni, Alberto, Zamboni, Paolo
Publicado 2010

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

por Neri, Marcella, Valli, Emanuele, Alfano, Giovanna, Bovolenta, Matteo, Spitali, Pietro, Rapezzi, Claudio, Muntoni, Francesco, Banfi, Sandro, Perini, Giovanni, Gualandi, Francesca, Ferlini, Alessandra
Publicado 2012

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System

por Lattanzi, Annalisa, Duguez, Stephanie, Moiani, Arianna, Izmiryan, Araksya, Barbon, Elena, Martin, Samia, Mamchaoui, Kamel, Mouly, Vincent, Bernardi, Francesco, Mavilio, Fulvio, Bovolenta, Matteo
Publicado 2017

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-relat...

por Bovolenta, Matteo, Neri, Marcella, Martoni, Elena, Urciuolo, Anna, Sabatelli, Patrizia, Fabris, Marina, Grumati, Paolo, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Bonaldo, Paolo, Ferlini, Alessandra, Gualandi, Francesca
Publicado 2010

The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms

por Bovolenta, Matteo, Erriquez, Daniela, Valli, Emanuele, Brioschi, Simona, Scotton, Chiara, Neri, Marcella, Falzarano, Maria Sofia, Gherardi, Samuele, Fabris, Marina, Rimessi, Paola, Gualandi, Francesca, Perini, Giovanni, Ferlini, Alessandra
Publicado 2012

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

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

por Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, Anna, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria S, Rimessi, Paola, Ciccone, Roberto, Ashton, Emma, McCauley, Joanne, Yau, Shu, Abbs, Stephen, Muntoni, Francesco, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra
Publicado 2008

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

por Brioschi, Simona, Gualandi, Francesca, Scotton, Chiara, Armaroli, Annarita, Bovolenta, Matteo, Falzarano, Maria S, Sabatelli, Patrizia, Selvatici, Rita, D’Amico, Adele, Pane, Marika, Ricci, Giulia, Siciliano, Gabriele, Tedeschi, Silvana, Pini, Antonella, Vercelli, Liliana, De Grandis, Domenico, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Mongini, Tiziana, Ferlini, Alessandra
Publicado 2012