Search Results - "Tuzzi, Maria Rosaria"

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts by Porto, Caterina, Cardone, Monica, Fontana, Federica, Rossi, Barbara, Tuzzi, Maria Rosaria, Tarallo, Antonietta, Barone, Maria Vittoria, Andria, Generoso, Parenti, Giancarlo

“…In spite of the progress in the treatment of lysosomal storage diseases (LSDs), in some of these disorders the available therapies show limited efficacy and a…”
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pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase by Flanagan, John J, Rossi, Barbara, Tang, Katherine, Wu, Xiaoyang, Mascioli, Kirsten, Donaudy, Francesca, Tuzzi, Maria Rosaria, Fontana, Federica, Cubellis, Maria Vittoria, Porto, Caterina, Benjamin, Elfrida, Lockhart, David J, Valenzano, Kenneth J, Andria, Generoso, Parenti, Giancarlo, Do, Hung V

“…Pompe disease is a lysosomal storage disorder (LSD) caused by mutations in the gene that encodes acid α-glucosidase (GAA). Recently, small molecule…”
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Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease by Porto, Caterina, Pisani, Antonio, Rosa, Margherita, Acampora, Emma, Avolio, Valeria, Tuzzi, Maria Rosaria, Visciano, Bianca, Gagliardo, Cristina, Materazzi, Serena, la Marca, Giancarlo, Andria, Generoso, Parenti, Giancarlo

“…Fabry disease (FD) is an X-linked inherited disease due to alpha-galactosidase A (alpha-Gal A) deficiency and characterized by lysosomal storage of…”
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Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1 by Melis, D, Perone, L, Sperandeo, M P, Sabbatino, M S, Tuzzi, M R, Romano, A, Parenti, G, Andria, G

“…We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide…”
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