PICCOLO, PASQUALE
PICCOLO, PASQUALE
DIPARTIMENTO DI SCIENZE BIOMEDICHE AVANZATE
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
2010 BRUNETTI PIERRI, Nicola; Lachman, R; Lee, K; Leal, Sm; Piccolo, P; Van Den Veyver, Ib; Bacino, Ca
The GH-IGF axis in glycogen storage disease type 1 (GSD1): evidence of different growth patterns and IGF levels in patients with GSD1A and GSD1B
2008 Melis, D; Pivonello, R; Parenti, Giancarlo; Gaudieri, V; DELLA CASA, Roberto; Salerno, Mariacarolina; D'Elia, F; Piccolo, P; Lombardi, G; Colao, A; Andria, Generoso
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats.
2013 Pastore, N; Nusco, E; Piccolo, P; Castaldo, S; Van?kova, J; Vetrini, F; Palmer, Dj; Vitek, L; Ng, P; BRUNETTI PIERRI, Nicola
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.
2010 Melis, Daniela; Pivonello, R; Parenti, Giancarlo; DELLA CASA, Roberto; Salerno, Mariacarolina; Balivo, F; Piccolo, P; Di Somma, C; Colao, A; Andria, Generoso
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
2014 BRUNETTI PIERRI, Nicola; Torrado, M; Fernandez Mdel, C; Tello, Am; Arberas, Cl; Cardinale, A; Piccolo, P; Bacino, Ca
SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors.
2013 Piccolo, P; Vetrini, F; Mithbaokar, P; Grove, Nc; Bertin, T; Palmer, D; Ng, P; BRUNETTI PIERRI, Nicola
SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction.
2014 Piccolo, P; Annunziata, P; Mithbaokar, P; BRUNETTI PIERRI, Nicola
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?
2011 BRUNETTI PIERRI, Nicola; Piccolo, P; Morava, E; Wevers, Ra; Mcguirk, M; Johnson, Yr; Urban, Z; Dishop, Mk; Potocki, L.
Intrathecal injection of helper-dependent adenoviral vectors results in long-term transgene expression in neuroependymal cells and neurons
2011 Dindot, S; Piccolo, P; Grove, N; Palmer, D; BRUNETTI PIERRI, Nicola
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.
2014 Piccolo, P; Mithbaokar, P; Sabatino, V; Tolmie, J; Melis, D; Schiaffino, Mc; Filocamo, M; Andria, G; BRUNETTI PIERRI, Nicola
Downregulation of HNF-4α and defective zonation in livers expressing mutant Z α1-antitrypsin
2017 Piccolo, Pasquale; Annunziata, Patrizia; Soria, Leandro R; Attanasio, Sergio; Barbato, Anna; Castello, Raffaele; Carissimo, Annamaria; Quagliata, Luca; Terracciano, Luigi M; BRUNETTI PIERRI, Nicola
Retinal transduction profiles by high-capacity viral vectors.
2014 Puppo, A; Cesi, G; Marrocco, E; Piccolo, P; Jacca, S; Shayakhmetov, Dm; Parks, Rj; Davidson, Bl; Colloca, S; BRUNETTI PIERRI, Nicola; Ng, P; Donofrio, G; Auricchio, Alberto
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance.
2007 Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, Maria; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco
Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1- anti-trypsin deficiency.
2013 Pastore, N.; Blomenkamp, K.; Annunziata, Fabio; Piccolo, P.; Mithbaokar, P.; Sepe, R. M.; Vetrini, F.; Palmer, D.; Ng, P.; Polishchuk, P.; Iacobacci, S.; Polishchuk, R.; Teckman, J.; Ballabio, A.; BRUNETTI PIERRI, Nicola
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis
2014 Polishchuk, Ev; Concilli, M; Iacobacci, S; Chesi, G; Pastore, N; Piccolo, P; Paladino, S; Baldantoni, D; Van Ijzendoorn, Sc; Chan, J; Chang, Cj; Amoresano, A.; Pane, F; Pucci, P; Tarallo, A; Parenti, Giancarlo; Brunetti Pierri, N; Settembre, Carmine; Ballabio, Andrea; Polishchuk, Rs; Pucci, Pietro
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect
2019 Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchuk, Elena; Hicks, John; Polishchuk, Roman; Bacino, Carlos A; Brunetti-Pierri, Nicola
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking
2019 Piccolo, P.; Sabatino, V.; Mithbaokar, P.; Polishchuck, E.; Law, S. K.; Magraner-Pardo, L.; Pons, T.; Polishchuck, R.; Brunetti-Pierri, N.
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
2017 Piccolo, Pasquale; Attanasio, Sergio; Secco, Ilaria; Sangermano, Riccardo; Strisciuglio, Caterina; Limongelli, Giuseppe; Miele, Erasmo; Mutarelli, Margherita; Banfi, Sandro; Nigro, Vincenzo; Pons, Tirso; Valencia, Alfonso; Zentilin, Lorena; Campione, Severo; Nardone, Gerardo; Lynnes, Ty C; Celestino-Soper, Patricia B S; Spoonamore, Katherine G; D'Armiento, Francesco P; Giacca, Mauro; Staiano, Annamaria; Vatta, Matteo; Collesi, Chiara; Brunetti-Pierri, Nicola
Gene therapy for inherited diseases of liver metabolism.
2015 Piccolo, P; BRUNETTI PIERRI, Nicola
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. | 1.1 Articolo in rivista | 2007 | Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, M; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco | |
| Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. | 1.1 Articolo in rivista | 2010 | BRUNETTI PIERRI, Nicola; Lachman, R; Lee, K; Leal, Sm; Piccolo, P; Van Den Veyver, Ib; Bacino, Ca | |
| The GH-IGF axis in glycogen storage disease type 1 (GSD1): evidence of different growth patterns and IGF levels in patients with GSD1A and GSD1B | 1.5 Abstract in rivista | 2008 | Melis, D; Pivonello, R; Parenti, Giancarlo; Gaudieri, V; DELLA CASA, Roberto; Salerno, Mariacarolina; D'Elia, F; Piccolo, P; Lombardi, G; Colao, A; Andria, Generoso | |
| Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. | 1.1 Articolo in rivista | 2013 | Pastore, N; Nusco, E; Piccolo, P; Castaldo, S; Van?kova, J; Vetrini, F; Palmer, Dj; Vitek, L; Ng, P; BRUNETTI PIERRI, Nicola | |
| The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. | 1.1 Articolo in rivista | 2010 | Melis, Daniela; Pivonello, R; Parenti, Giancarlo; DELLA CASA, Roberto; Salerno, Mariacarolina; Balivo, F; Piccolo, P; Di Somma, C; Colao, A; Andria, Generoso | |
| Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. | 1.1 Articolo in rivista | 2014 | BRUNETTI PIERRI, Nicola; Torrado, M; Fernandez Mdel, C; Tello, Am; Arberas, Cl; Cardinale, A; Piccolo, P; Bacino, Ca | |
| SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors. | 1.1 Articolo in rivista | 2013 | Piccolo, P; Vetrini, F; Mithbaokar, P; Grove, Nc; Bertin, T; Palmer, D; Ng, P; BRUNETTI PIERRI, Nicola | |
| SR-A and SREC-I binding peptides increase HDAd-mediated liver transduction. | 1.1 Articolo in rivista | 2014 | Piccolo, P; Annunziata, P; Mithbaokar, P; BRUNETTI PIERRI, Nicola | |
| Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? | 1.1 Articolo in rivista | 2011 | BRUNETTI PIERRI, Nicola; Piccolo, P; Morava, E; Wevers, Ra; Mcguirk, M; Johnson, Yr; Urban, Z; Dishop, Mk; Potocki, L. | |
| Intrathecal injection of helper-dependent adenoviral vectors results in long-term transgene expression in neuroependymal cells and neurons | 1.1 Articolo in rivista | 2011 | Dindot, S; Piccolo, P; Grove, N; Palmer, D; BRUNETTI PIERRI, Nicola | |
| SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan. | 1.1 Articolo in rivista | 2014 | Piccolo, P; Mithbaokar, P; Sabatino, V; Tolmie, J; Melis, D; Schiaffino, Mc; Filocamo, M; Andria, G; BRUNETTI PIERRI, Nicola | |
| Downregulation of HNF-4α and defective zonation in livers expressing mutant Z α1-antitrypsin | 1.1 Articolo in rivista | 2017 | Piccolo, Pasquale; Annunziata, Patrizia; Soria, Leandro R; Attanasio, Sergio; Barbato, Anna; Castello, Raffaele; Carissimo, Annamaria; Quagliata, Luca; Terracciano, Luigi M; BRUNETTI PIERRI, Nicola | |
| Retinal transduction profiles by high-capacity viral vectors. | 1.1 Articolo in rivista | 2014 | Puppo, A; Cesi, G; Marrocco, E; Piccolo, P; Jacca, S; Shayakhmetov, Dm; Parks, Rj; Davidson, Bl; Colloca, S; BRUNETTI PIERRI, Nicola; Ng, P; Donofrio, G; Auricchio, Alberto | |
| Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. | 1.1 Articolo in rivista | 2007 | Sperandeo, Mp; Annunziata, P; Bozzato, A; Piccolo, P; Maiuri, L; D'Armiento, Maria; Ballabio, Andrea; Corso, G; Andria, Generoso; Borsani, G; Sebastio, Gianfranco | |
| Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1- anti-trypsin deficiency. | 1.1 Articolo in rivista | 2013 | Pastore, N.; Blomenkamp, K.; Annunziata, Fabio; Piccolo, P.; Mithbaokar, P.; Sepe, R. M.; Vetrini, F.; Palmer, D.; Ng, P.; Polishchuk, P.; Iacobacci, S.; Polishchuk, R.; Teckman, J.; Ballabio, A.; BRUNETTI PIERRI, Nicola | |
| Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis | 1.1 Articolo in rivista | 2014 | Polishchuk, Ev; Concilli, M; Iacobacci, S; Chesi, G; Pastore, N; Piccolo, P; Paladino, S; Baldantoni, D; Van Ijzendoorn, Sc; Chan, J; Chang, Cj; Amoresano, A.; Pane, F; Pucci, P; Tarallo, A; Parenti, Giancarlo; Brunetti Pierri, N; Settembre, Carmine; Ballabio, Andrea; Polishchuk, Rs; Pucci, Pietro | |
| Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect | 1.1 Articolo in rivista | 2019 | Piccolo, Pasquale; Sabatino, Valeria; Mithbaokar, Pratibha; Polishchuk, Elena; Hicks, John; Polishchuk, Roman; Bacino, Carlos A; Brunetti-Pierri, Nicola | |
| Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking | 1.1 Articolo in rivista | 2019 | Piccolo, P.; Sabatino, V.; Mithbaokar, P.; Polishchuck, E.; Law, S. K.; Magraner-Pardo, L.; Pons, T.; Polishchuck, R.; Brunetti-Pierri, N. | |
| MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy | 1.1 Articolo in rivista | 2017 | Piccolo, Pasquale; Attanasio, Sergio; Secco, Ilaria; Sangermano, Riccardo; Strisciuglio, Caterina; Limongelli, Giuseppe; Miele, Erasmo; Mutarelli, Margherita; Banfi, Sandro; Nigro, Vincenzo; Pons, Tirso; Valencia, Alfonso; Zentilin, Lorena; Campione, Severo; Nardone, Gerardo; Lynnes, Ty C; Celestino-Soper, Patricia B S; Spoonamore, Katherine G; D'Armiento, Francesco P; Giacca, Mauro; Staiano, Annamaria; Vatta, Matteo; Collesi, Chiara; Brunetti-Pierri, Nicola | |
| Gene therapy for inherited diseases of liver metabolism. | 1.1 Articolo in rivista | 2015 | Piccolo, P; BRUNETTI PIERRI, Nicola |