ZANFARDINO, Paola
ZANFARDINO, Paola
DIPARTIMENTO DI BIOMEDICINA TRASLAZIONALE E NEUROSCIENZE
A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P
2024-01-01 Milella, G.; Amati, A.; Lastella, P.; Zanfardino, P.; Petruzzella, V.; Zoccolella, S.
Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation
2022-01-01 Zanfardino, Paola; Petruzzella, Vittoria
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3
2022-01-01 Maria Turco, Elisa; Maria Giada Giovenale, Angela; Rotundo, Giovannina; Mazzoni, Martina; Zanfardino, Paola; Frezza, Katia; Torrente, Isabella; Mary Carletti, Rose; Damiani, Devid; Santorelli, Filippo M; Luigi Vescovi, Angelo; Petruzzella, Vittoria; Rosati, Jessica
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts
2023-01-01 Zanfardino, Paola; Longo, Giovanna; Amati, Alessandro; Morani, Federica; Picardi, Ernesto; Girolamo, Francesco; Pafundi, Mariella; Cox, Sharon N; Manzari, Caterina; Tullo, Apollonia; Doccini, Stefano; Santorelli, Filippo M; Petruzzella, Vittoria
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts
2024-01-01 Zanfardino, Paola; Amati, Alessandro; Doccini, Stefano; Cox, Sharon N; Tullo, Apollonia; Longo, Giovanna; D'Erchia, Annamaria; Picardi, Ernesto; Nesti, Claudia; Santorelli, Filippo M; Petruzzella, Vittoria
Tackling dysfunction of mitochondrial bioenergetics in the brain
2021-01-01 Zanfardino, P.; Doccini, S.; Santorelli, F. M.; Petruzzella, V.
Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation
2022-01-01 Zanfardino, Paola; Amati, Alessandro; Petracca, Easter Anna; Santorelli, Filippo M; Petruzzella, Vittoria
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P | 1-gen-2024 | Milella, G.; Amati, A.; Lastella, P.; Zanfardino, P.; Petruzzella, V.; Zoccolella, S. | |
| Autophagy and proliferation are dysregulated in Charcot-Marie-Tooth disease type 2A cells harboring MFN2 (mitofusin 2) mutation | 1-gen-2022 | Zanfardino, Paola; Petruzzella, Vittoria | |
| Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3 | 1-gen-2022 | Maria Turco, Elisa; Maria Giada Giovenale, Angela; Rotundo, Giovannina; Mazzoni, Martina; Zanfardino, Paola; Frezza, Katia; Torrente, Isabella; Mary Carletti, Rose; Damiani, Devid; Santorelli, Filippo M; Luigi Vescovi, Angelo; Petruzzella, Vittoria; Rosati, Jessica | |
| Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts | 1-gen-2023 | Zanfardino, Paola; Longo, Giovanna; Amati, Alessandro; Morani, Federica; Picardi, Ernesto; Girolamo, Francesco; Pafundi, Mariella; Cox, Sharon N; Manzari, Caterina; Tullo, Apollonia; Doccini, Stefano; Santorelli, Filippo M; Petruzzella, Vittoria | |
| OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts | 1-gen-2024 | Zanfardino, Paola; Amati, Alessandro; Doccini, Stefano; Cox, Sharon N; Tullo, Apollonia; Longo, Giovanna; D'Erchia, Annamaria; Picardi, Ernesto; Nesti, Claudia; Santorelli, Filippo M; Petruzzella, Vittoria | |
| Tackling dysfunction of mitochondrial bioenergetics in the brain | 1-gen-2021 | Zanfardino, P.; Doccini, S.; Santorelli, F. M.; Petruzzella, V. | |
| Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation | 1-gen-2022 | Zanfardino, Paola; Amati, Alessandro; Petracca, Easter Anna; Santorelli, Filippo M; Petruzzella, Vittoria |