CACIOTTI, ANNA
CACIOTTI, ANNA
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B
2017 Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R
Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome
2014 Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A.
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C
2022 Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia
Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction
2024 Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
2018 Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N.; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia
Morquio B disease: From pathophysiology towards diagnosis
2021 Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
2019 Tonin R.; Caciotti A.; Procopio E.; Fischetto R.; Deodato F.; Mancardi M.M.; Di Rocco M.; Ardissone A.; Salviati A.; Marangi A.; Strisciuglio P.; Mangone G.; Casini A.; Ricci S.; Fiumara A.; Parini R.; Pavone F.S.; Guerrini R.; Calamai M.; Morrone A.
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
2005 A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone
Synthesis of a New beta-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis
2022 Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression
2017 Deodato, Federica; Procopio, Elena; Rampazzo, Angelica; Taurisano, Roberta; Donati, Maria Alice; Dionisi-Vici, Carlo; Caciotti, Anna; Morrone, Amelia; Scarpa, Maurizio
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview
2020 Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B | 2017 | Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R | |
| Combined deletions of GALNS and PIEZO1 genes in two patients affected by MorquioA syndrome | 2014 | Caciotti, A.; Tonin, R.; Ferri, L.; Catarzi, S.; Cavicchi, C.; Parini, R.; Rigoldi, M.; Scarpa, M.; Giovannini, I.; Mooney, S. D.; Pantaleo, M.; Giglio, S.; Procopio, E.; Donati, M. A.; Guerrini, R.; Morrone, A. | |
| Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C | 2022 | Capitini, Claudia; Feo, Federica; Caciotti, Anna; Tonin, Rodolfo; Lulli, Matteo; Coviello, Domenico; Guerrini, Renzo; Calamai, Martino; Morrone, Amelia | |
| Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction | 2024 | Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai | |
| Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease | 2018 | Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N.; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia | |
| Morquio B disease: From pathophysiology towards diagnosis | 2021 | Caciotti, Anna; Cellai, Lucrezia; Tonin, Rodolfo; Mei, Davide; Procopio, Elena; Di Rocco, Maja; Andaloro, Antonio; Antuzzi, Daniela; Rampazzo, Angelica; Rigoldi, Miriam; Forni, Giulia; la Marca, Giancarlo; Guerrini, Renzo; Morrone, Amelia | |
| Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content | 2019 | Tonin R.; Caciotti A.; Procopio E.; Fischetto R.; Deodato F.; Mancardi M.M.; Di Rocco M.; Ardissone A.; Salviati A.; Marangi A.; Strisciuglio P.; Mangone G.; Casini A.; Ricci S.; Fiumara A.; Parini R.; Pavone F.S.; Guerrini R.; Calamai M.; Morrone A. | |
| Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. | 2005 | A. Caciotti;M. A. Donati;A. Boneh;A. d'Azzo;A. Federico;R. Parini;D. Antuzzi;T. Bardelli;D. Nosi;V. Kimonis;E. Zammarchi;A. Morrone | |
| Synthesis of a New beta-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis | 2022 | Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona | |
| The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression | 2017 | Deodato, Federica; Procopio, Elena; Rampazzo, Angelica; Taurisano, Roberta; Donati, Maria Alice; Dionisi-Vici, Carlo; Caciotti, Anna; Morrone, Amelia; Scarpa, Maurizio | |
| Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview | 2020 | Caciotti A.; Melani F.; Tonin R.; Cellai L.; Catarzi S.; Procopio E.; Chilleri C.; Mavridou I.; Michelakakis H.; Fioravanti A.; d'Azzo A.; Guerrini R.; Morrone A. |