Pathogenesis of Mucopolysaccharidoses, an Update

Por Fecarotta, Simona, Tarallo, Antonietta, Damiano, Carla, Minopoli, Nadia, Parenti, Giancarlo
Publicado no Int J Mol Sci (2020)

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

Por Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo
Publicado em 2009

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

Por Cardone, Monica, Porto, Caterina, Tarallo, Antonietta, Vicinanza, Mariella, Rossi, Barbara, Polishchuk, Elena, Donaudy, Francesca, Andria, Generoso, De Matteis, Maria Antonietta, Parenti, Giancarlo
Publicado em 2008

AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease

Por Gatto, Francesca, Rossi, Barbara, Tarallo, Antonietta, Polishchuk, Elena, Polishchuk, Roman, Carrella, Alessandra, Nusco, Edoardo, Alvino, Filomena Grazia, Iacobellis, Francesca, De Leonibus, Elvira, Auricchio, Alberto, Diez-Roux, Graciana, Ballabio, Andrea, Parenti, Giancarlo
Publicado no Sci Rep (2017)

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

Por Schaaf, Gerben J., van Gestel, Tom J. M., in ‘t Groen, Stijn L. M., de Jong, Bart, Boomaars, Björn, Tarallo, Antonietta, Cardone, Monica, Parenti, Giancarlo, van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Publicado no Acta Neuropathol Commun (2018)

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Por Belfiore, Maria Paola, Iacobellis, Francesca, Acampora, Emma, Caiazza, Martina, Rubino, Marta, Monda, Emanuele, Magaldi, Maria Rosaria, Tarallo, Antonietta, Sasso, Marcella, De Pasquale, Valeria, Grassi, Roberto, Cappabianca, Salvatore, Calabrò, Paolo, Fecarotta, Simona, Esposito, Salvatore, Esposito, Giovanni, Pisani, Antonio, Pavone, Luigi Michele, Parenti, Giancarlo, Limongelli, Giuseppe
Publicado no PLoS One (2020)

Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis

Por Polishchuk, Elena V., Concilli, Mafalda, Iacobacci, Simona, Chesi, Giancarlo, Pastore, Nunzia, Piccolo, Pasquale, Paladino, Simona, Baldantoni, Daniela, van IJzendoorn, Sven C.D., Chan, Jefferson, Chang, Christopher J., Amoresano, Angela, Pane, Francesca, Pucci, Piero, Tarallo, Antonietta, Parenti, Giancarlo, Brunetti-Pierri, Nicola, Settembre, Carmine, Ballabio, Andrea, Polishchuk, Roman S.
Publicado em 2014