The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts C Porto, M Cardone, F Fontana, B Rossi, MR Tuzzi, A Tarallo, MV Barone, ... Molecular Therapy 17 (6), 964-971, 2009 | 197 | 2009 |
Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ... Molecular Therapy 15 (3), 508-514, 2007 | 148 | 2007 |
Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature A Pisani, B Visciano, GD Roux, M Sabbatini, C Porto, G Parenti, ... Molecular genetics and metabolism 107 (3), 267-275, 2012 | 131 | 2012 |
The pharmacological chaperone 1‐deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha‐glucosidase JJ Flanagan, B Rossi, K Tang, X Wu, K Mascioli, F Donaudy, MR Tuzzi, ... Human mutation 30 (12), 1683-1692, 2009 | 126 | 2009 |
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine C Porto, MC Ferrara, M Meli, E Acampora, V Avolio, M Rosa, ... Molecular Therapy 20 (12), 2201-2211, 2012 | 115 | 2012 |
Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts M Cardone, C Porto, A Tarallo, M Vicinanza, B Rossi, E Polishchuk, ... Pathogenetics 1, 1-22, 2008 | 105 | 2008 |
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy G Parenti, S Fecarotta, G La Marca, B Rossi, S Ascione, MA Donati, ... Molecular Therapy 22 (11), 2004-2012, 2014 | 83 | 2014 |
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease C Porto, A Pisani, M Rosa, E Acampora, V Avolio, MR Tuzzi, B Visciano, ... Journal of inherited metabolic disease 35, 513-520, 2012 | 62 | 2012 |
N-Butyl-l-deoxynojirimycin (l-NBDNJ): Synthesis of an Allosteric Enhancer of α-Glucosidase Activity for the Treatment of Pompe Disease D D’Alonzo, M De Fenza, C Porto, R Iacono, M Huebecker, ... Journal of Medicinal Chemistry 60 (23), 9462-9469, 2017 | 35 | 2017 |
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease A Tarallo, C Damiano, S Strollo, N Minopoli, A Indrieri, E Polishchuk, ... EMBO Molecular Medicine 13 (11), e14434, 2021 | 18 | 2021 |
Allosteric chaperones and uses thereof G Parenti, C Porto, M Moracci, MC Ferrara, B Cobucci-Ponzano, G Andria US Patent App. 14/405,575, 2015 | 10 | 2015 |
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease A Pisani, C Porto, G Andria, G Parenti Journal of inherited metabolic disease 37, 145-146, 2014 | 7 | 2014 |
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase R Iacono, N Minopoli, MC Ferrara, A Tarallo, C Damiano, C Porto, ... Journal of Enzyme Inhibition and Medicinal Chemistry 36 (1), 2068-2079, 2021 | 4 | 2021 |
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency. A Pisani, B Visciano, R Russo, GR Mozzillo, C Porto, I De Maggio, ... Journal of nephrology 25 (4), 582-585, 2012 | 4 | 2012 |
SYNERGY BETWEEN THE PHARMACOLOGICAL CHAPERONE 1-DEOXYGALACTONOJIRIMYCIN AND AGALSIDASE ALPHA IN CULTURED FIBROBLASTS FROM PATIENTS WITH FABRY DISEASE B Visciano, C Porto, E Acampora, R Russo, E Riccio, I Capuano, ... NEPHROLOGY DIALYSIS TRANSPLANTATION 28, 319-320, 2013 | | 2013 |
Nuovi approcci terapeutici alle malattie da accumulo lisosomiale G Parenti, C Porto, R Della Casa INDICE numero 168 Ottobre-Dicembre 2012, 209, 2012 | | 2012 |
S2. 2 Enzyme replacement therapy in the infantile-onset Pompe disease G Parenti, C Porto, E Acampora, V Avolio, C Gagliardo, M Rosa, ... Acta Myologica 30 (3), 205, 2011 | | 2011 |
Fabry disease associated with G6PD definciency A Pisani, C Porto, I De Maggio, R Russo, G Pontarelli, GRD Villani, ... Atti del 18th European Study Group on Lysosomal Diseases (ESGLD) Workshop, 70-70, 2011 | | 2011 |
Derangement of mannose-6-phosphate receptor trafficking impairs lysosomal enzyme uptake in fibroblasts from lysosomal storage diseases M Cardone, C Porto, A Tarallo, B Rossi, M Tuzzi, F Donaudy, F Fontana, ... JOURNAL OF INHERITED METABOLIC DISEASE 31, 115-115, 2008 | | 2008 |
Coinvolgimento epatico nei difetti della biosintesi del colesterolo. M Rossi, G Parenti, A Battagliese, MP Cicalese, N Brunetti Pierri, G Corso, ... Giornate Scientifiche del Polo delle Scienze e delle Tecnologie per la Vita …, 2003 | | 2003 |