Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model von Visigalli, Ilaria, Delai, Stefania, Politi, Letterio S., Di Domenico, Carmela, Cerri, Federica, Mrak, Emanuela, D'Isa, Raffaele, Ungaro, Daniela, Stok, Merel, Sanvito, Francesca, Mariani, Elisabetta, Staszewsky, Lidia, Godi, Claudia, Russo, Ilaria, Cecere, Francesca, del Carro, Ubaldo, Rubinacci, Alessandro, Brambilla, Riccardo, Quattrini, Angelo, Di Natale, Paola, Ponder, Katherine, Naldini, Luigi, Biffi, Alessandra

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Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency von Cosma, Maria Pia, Pepe, Stefano, Parenti, Giancarlo, Settembre, Carmine, Annunziata, Ida, Wade-Martins, Richard, Domenico, Carmela Di, Natale, Paola Di, Mankad, Anuj, Cox, Barbara, Uziel, Graziella, Mancini, Grazia M.S., Zammarchi, Enrico, Donati, Maria Alice, Kleijer, Wim J., Filocamo, Mirella, Carrozzo, Romeo, Carella, Massimo, Ballabio, Andrea

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The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure von Schiattarella, Gabriele Giacomo, Cerulo, Giuliana, De Pasquale, Valeria, Cocchiaro, Pasquale, Paciello, Orlando, Avallone, Luigi, Belfiore, Maria Paola, Iacobellis, Francesca, Di Napoli, Daniele, Magliulo, Fabio, Perrino, Cinzia, Trimarco, Bruno, Esposito, Giovanni, Di Natale, Paola, Pavone, Luigi Michele

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Mucopolysaccharidosis IVA (Morquio A): Identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients von Tomatsu, Shunji, Filocamo, Mirella, Orii, Koji O., Sly, William S., Gutierrez, Monica A., Nishioka, Tatsuo, Serrato, Olga Peña, Natale, Paola Di, Montaño, Adriana Maria, Yamaguchi, Seiji, Kondo, Naomi, Orii, Tadao, Noguchi, Akihiko

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Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype von Tummolo, Albina, Gabrielli, Orazio, Gaeta, Alberto, Masciopinto, Maristella, Zampini, Lucia, Pavone, Luigi Michele, Di Natale, Paola, Papadia, Francesco

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Mucopolysaccharidosis IIIB: Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis von Villani, Guglielmo R.D, Domenico, Carmela Di, Musella, Annapaola, Cecere, Francesca, Napoli, Daniele Di, Natale, Paola Di

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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation von Lonardo, Fortunato, Di Natale, Paola, Lualdi, Susanna, Acquaviva, Fabio, Cuoco, Cristina, Scarano, Francesca, Maioli, Marianna, Pavone, Luigi Michele, Di Gregorio, Grazia, Filocamo, Mirella, Scarano, Gioacchino

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Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB von Villani, Guglielmo R.D., Gargiulo, Nadia, Faraonio, Raffaella, Castaldo, Sigismondo, Gonzalez y Reyero, Enrico, Di Natale, Paola

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Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated von Villani, Guglielmo R. D., Chierchia, Armando, Di Napoli, Daniele, Di Natale, Paola

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Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector von DI DOMENICO, Carmela, VILLANI, Guglielmo R. D, DI NAPOLI, Daniele, REYERO, Enrico Gonzalez Y, LOMBARDO, Angelo, NALDINI, Luigi, DI NATALE, Paola

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Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2 von Zito, Ester, Fraldi, Alessandro, Pepe, Stefano, Annunziata, Ida, Kobinger, Gary, Di Natale, Paola, Ballabio, Andrea, Cosma, Maria Pia

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Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB von Di Domenico, Carmela, Villani, Guglielmo R.D., Di Napoli, Daniele, Nusco, Edoardo, Calì, Gaetano, Nitsch, Lucio, Di Natale, Paola

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Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector von Di Natale, Paola, Di Domenico, Carmela, Gargiulo, Nadia, Castaldo, Sigismondo, Gonzalez Y Reyero, Enrico, Mithbaokar, Pratibha, De Felice, Mario, Follenzi, Antonia, Naldini, Luigi, Villani, Guglielmo R D

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Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene von Tomatsu, Shunji, Fukuda, Seiji, Cooper, Alan, Wraith, James E., Ferreira, Patrick, Di Natale, Paola, Tortora, Paolo, Fujimoto, Atsuko, Kato, Zenichiro, Yamada, Naoto, Isogai, Kouji, Yamagishi, Atsushi, Sukegawa, Kazuko, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Sly, William S., Orii, Tadao

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Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) von Fedele, Anthony Olind, Filocamo, Mirella, Di Rocco, Maja, Sersale, Giovanna, Lübke, Torben, di Natale, Paola, Cosma, Maria Pia, Ballabio, Andrea

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Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease von Natale, Paola Di, Villani, Guglielmo R. D., Parini, Rossella, Scarpa, Maurizio, Parenti, Giancarlo, Pontarelli, Gianfranco, Grosso, Michela, Sersale, Giovanna, Tomanin, Rosella, Sibilio, Michelina, Barone, Rita, Fiumara, Agata

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Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient von Villani, Guglielmo R D, Grosso, Michela, Pontarelli, Gianfranco, Chierchia, Armando, Sessa, Raffaele, Sibilio, Michelina, Parenti, Giancarlo, Di Natale, Paola

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Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations von TOMATSU, Shunji, SUKEGAWA, Kazuko, COOPER, Alan, DI NATALE, Paola, GAL, Andreas, NOGUCHI, Akihiko, SLY, William S, TRANDAFIRESCU, Georgeta G, GUTIERREZ, Monica A, NISHIOKA, Tatsuo, YAMAGUCHI, Seiji, ORII, Tadao, FROISSART, Roseline, MAIRE, Irene, CHABAS, Amparo

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Mucopolysaccharidosis type II: Identification of six novel mutations in Italian patients von Villani, Guglielmo R. D., Balzano, Nicola, Grosso, Michela, Salvatore, Francesco, Izzo, Paola, Di Natale, Paola

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Sulfatase activities are regulated by the interaction of the sulfatase-modifying factor 1 with SUMF2 von Zito, Ester, Fraldi, Alessandro, Pepe, Stefano, Annunziata, Ida, Kobinger, Gary, Di Natale, Paola, Ballabio, Andrea, Cosma, Maria Pia

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