Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

por Regis, Stefano, Corsolini, Fabio, Grossi, Serena, Tappino, Barbara, Cooper, David N., Filocamo, Mirella
Publicado 2013

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A

por Cappelli, Enrico, Bertola, Nadia, Bruno, Silvia, Degan, Paolo, Regis, Stefano, Corsolini, Fabio, Banelli, Barbara, Dufour, Carlo, Ravera, Silvia
Publicado 2021

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

por Bottega, Roberta, Napolitano, Luisa M. R., Carbone, Anna, Cappelli, Enrico, Corsolini, Fabio, Onesti, Silvia, Savoia, Anna, Gasparini, Paolo, Faletra, Flavio
Publicado 2019

Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1

por Bertola, Nadia, Bruno, Silvia, Capanni, Cristina, Columbaro, Marta, Mazzarello, Andrea Nicola, Corsolini, Fabio, Regis, Stefano, Degan, Paolo, Cappelli, Enrico, Ravera, Silvia
Publicado 2023

Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia

por Bertola, Nadia, Regis, Stefano, Bruno, Silvia, Mazzarello, Andrea Nicola, Serra, Martina, Lupia, Michela, Sabatini, Federica, Corsolini, Fabio, Ravera, Silvia, Cappelli, Enrico
Publicado 2023

Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40

por Comar, Manola, De Rocco, Daniela, Cappelli, Enrico, Zanotta, Nunzia, Bottega, Roberta, Svahn, Johanna, Farruggia, Piero, Misuraca, Aldo, Corsolini, Fabio, Dufour, Carlo, Savoia, Anna
Publicado 2013

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

por Ravera, Silvia, Dufour, Carlo, Cesaro, Simone, Bottega, Roberta, Faleschini, Michela, Cuccarolo, Paola, Corsolini, Fabio, Usai, Cesare, Columbaro, Marta, Cipolli, Marco, Savoia, Anna, Degan, Paolo, Cappelli, Enrico
Publicado 2016

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

por Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Publicado 2010

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

por Persico, Ilaria, Fontana, Giorgia, Faleschini, Michela, Zanchetta, Melania Eva, Ammeti, Daniele, Cappelli, Enrico, Corsolini, Fabio, Mosa, Clara, Guarina, Angela, Bogliolo, Massimo, Surrallés, Jordi, Dufour, Carlo, Farruggia, Piero, Savoia, Anna, Bottega, Roberta
Publicado 2023

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

por Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna
Publicado 2018

Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

por Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell’Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo
Publicado 2022

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

por Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David N, Filocamo, Mirella
Publicado 2011

P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE

por Miano, Maurizio, Bertola, Nadia, Grossi, Alice, Dell’orso, Gianluca, Regis, Stefano, Fioredda, Francesca, Lupia, Michela, Lanciotti, Marina, Palmisani, Elena, Carla Giarratana, Maria, Arcuri, Luca, Corsolini, Fabio, Rusmini, Marta, Uva, Paolo, Vozzi, Diego, Ceccherini, Isabella, Ravera, Silvia, Cappelli, Enrico, Dufour, Carlo
Publicado 2023

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

por Bottega, Roberta, Marzollo, Antonio, Marinoni, Maddalena, Athanasakis, Emmanouil, Persico, Ilaria, Bianco, Anna Monica, Faleschini, Michela, Valencic, Erica, Simoncini, Daniela, Rossini, Linda, Corsolini, Fabio, La Bianca, Martina, Robustelli, Giuseppe, Gabelli, Maria, Agosti, Massimo, Biffi, Alessandra, Grotto, Paolo, Bozzi, Valeria, Noris, Patrizia, Burlina, Alberto B., Pio d'Adamo, Adamo, Tommasini, Alberto, Faletra, Flavio, Pastore, Annalisa, Savoia, Anna
Publicado 2021