CUBELLIS, MARIA VITTORIA
CUBELLIS, MARIA VITTORIA
Dipartimento di Biologia
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease
2023 Monticelli, Maria; HAY MELE, Bruno; Allocca, Mariateresa; Liguori, Ludovica; Lukas, Jan; Chiara Monti, Maria; Morretta, Elva; Cubellis, MARIA VITTORIA; Andreotti, Giuseppina
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
2018 Citro, Valentina; Cimmaruta, Chiara; Monticelli, Maria; Riccio, Guglielmo; Hay Mele, Bruno; Cubellis, Maria Vittoria; Andreotti, Giuseppina
Passenger mutations as a target for the personalized therapy of cancer
2018 Monticelli, M; Viscovo, M; Riccio, G; Andreotti, G; Hay Mele, B; Cubellis, Mv
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males
2022 Croci, Susanna; Venneri, Mary Anna; Mantovani, Stefania; Fallerini, Chiara; Benetti, Elisa; Picchiotti, Nicola; Campolo, Federica; Imperatore, Francesco; Palmieri, Maria; Daga, Sergio; Gabbi, Chiara; Montagnani, Francesca; Beligni, Giada; Farias, Ticiana D J; Carriero, Miriam Lucia; Di Sarno, Laura; Alaverdian, Diana; Aslaksen, Sigrid; Cubellis, Maria Vittoria; Spiga, Ottavia; Baldassarri, Margherita; Fava, Francesca; Norman, Paul J; Frullanti, Elisa; Isidori, Andrea M; Amoroso, Antonio; Mari, Francesca; Furini, Simone; Mondelli, Mario U; Gen-Covid Multicenter Study, Null; Chiariello, Mario; Renieri, Alessandra; Meloni, Ilaria
PEGYLATION, THE ULTIMATE STRATEGY TO IMPROVE THE IN VIVO EFFICIENCY OF BIOACTIVE COMPOUNDS
2019 Bernard, Degryse; Eden, Gabriele; Archinti, Marco; Andreotti, Giuseppina; Citro, Valentina; Murphy, Ronan P.; Cubellis, MARIA VITTORIA; Furlan, Federico
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease
2020 Seemann, S.; Ernst, M.; Cimmaruta, C.; Struckmann, S.; Cozma, C.; Koczan, D.; Knospe, A. -M.; Haake, L. R.; Citro, V.; Brauer, A. U.; Andreotti, G.; Cubellis, M. V.; Fuellen, G.; Hermann, A.; Giese, A. -K.; Rolfs, A.; Lukas, J.
Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease
2020 Lukas, J.; Cimmaruta, C.; Liguori, L.; Pantoom, S.; Iwanov, K.; Petters, J.; Hund, C.; Bunschkowski, M.; Hermann, A.; Cubellis, M. V.; Rolfs, A.
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
2019 Monticelli, M; Liguori, L; Allocca, M; Andreotti, G; Cubellis, Mv.
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype
2019 Sparago, A.; Verma, A.; Patricelli, M. G.; Pignata, L.; Russo, S.; Calzari, L.; De Francesco, N.; Del Prete, R.; Palumbo, O.; Carella, M.; Mackay, D. J. G.; Rezwan, F. I.; Angelini, C.; Cerrato, F.; Cubellis, M. V.; Riccio, A.
Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor
2019 Furlan, Federico; Eden, Gabriele; Archinti, Marco; Arnaudova, Ralitsa; Andreotti, Giuseppina; Citro, Valentina; Cubellis, Maria Vittoria; Motta, Andrea; Degryse, Bernard
Pharmacological chaperones: A therapeutic approach for diseases caused by destabilizing missense mutations
2020 Liguori, L.; Monticelli, M.; Allocca, M.; Mele, B. H.; Lukas, J.; Cubellis, M. V.; Andreotti, G.
Bioinformatics tools for marine biotechnology: A practical tutorial with a metagenomic approach
2020 Liguori, L.; Monticelli, M.; Allocca, M.; Cubellis, M. V.; Hay Mele, B.
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones
2022 Monticelli, Maria; Liguori, Ludovica; Allocca, Mariateresa; Bosso, Andrea; Andreotti, Giuseppina; Lukas, Jan; Monti, Maria Chiara; Morretta, Elva; Cubellis, Maria Vittoria; Hay Mele, Bruno
Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women
2021 Monticelli, M.; Hay Mele, B.; Benetti, E.; Fallerini, C.; Baldassarri, M.; Furini, S.; Frullanti, E.; Mari, F.; Andreotti, G.; Cubellis, M. V.; Renieri, A.
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
2021 Monticelli, M.; Hay Mele, B.; Andreotti, G.; Cubellis, M. V.; Riccio, G.
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
2022 Pignata, Laura; Cecere, Francesco; Verma, Ankit; Hay Mele, Bruno; Monticelli, Maria; Acurzio, Basilia; Giaccari, Carlo; Sparago, Angela; Hernandez Mora, Jose Ramon; Monteagudo-Sánchez, Ana; Esteller, Manel; Pereda, Arrate; Tenorio-Castano, Jair; Palumbo, Orazio; Carella, Massimo; Prontera, Paolo; Piscopo, Carmelo; Accadia, Maria; Lapunzina, Pablo; Cubellis, Maria Vittoria; de Nanclares, Guiomar Perez; Monk, David; Riccio, Andrea; Cerrato, Flavia
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
2022 Pantoom, Supansa; Hules, Larissa; Schöll, Christopher; Petrosyan, Andranik; Monticelli, Maria; Pospech, Jola; Cubellis, Maria Vittoria; Hermann, Andreas; Lukas, Jan
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2
2015 Andreotti, Giuseppina; Monti, Maria Chiara; Citro, Valentina; Cubellis, MARIA VITTORIA
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
2015 A. D., Crescenzo; V., Citro; A., Freschi; A., Sparago; O., Palumbo; Cubellis, MARIA VITTORIA; M., Carella; P., Castelluccio; M. L., Cavaliere; F., Cerrato; A., Riccio
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
2020 Cubellis, M. V.; Pignata, L.; Verma, A.; Sparago, A.; Del Prete, R.; Monticelli, M.; Calzari, L.; Antona, V.; Melis, D.; Tenconi, R.; Russo, S.; Cerrato, F.; Riccio, A.
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease | 1.1 Articolo in rivista | 2023 | Monticelli, Maria; HAY MELE, Bruno; Allocca, Mariateresa; Liguori, Ludovica; Lukas, Jan; Chiara Monti, Maria; Morretta, Elva; Cubellis, MARIA VITTORIA; Andreotti, Giuseppina | |
| The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers | 1.1 Articolo in rivista | 2018 | Citro, Valentina; Cimmaruta, Chiara; Monticelli, Maria; Riccio, Guglielmo; Hay Mele, Bruno; Cubellis, Maria Vittoria; Andreotti, Giuseppina | |
| Passenger mutations as a target for the personalized therapy of cancer | 1.5 Abstract in rivista | 2018 | Monticelli, M; Viscovo, M; Riccio, G; Andreotti, G; Hay Mele, B; Cubellis, Mv | |
| The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males | 1.1 Articolo in rivista | 2022 | Croci, Susanna; Venneri, Mary Anna; Mantovani, Stefania; Fallerini, Chiara; Benetti, Elisa; Picchiotti, Nicola; Campolo, Federica; Imperatore, Francesco; Palmieri, Maria; Daga, Sergio; Gabbi, Chiara; Montagnani, Francesca; Beligni, Giada; Farias, Ticiana D J; Carriero, Miriam Lucia; Di Sarno, Laura; Alaverdian, Diana; Aslaksen, Sigrid; Cubellis, Maria Vittoria; Spiga, Ottavia; Baldassarri, Margherita; Fava, Francesca; Norman, Paul J; Frullanti, Elisa; Isidori, Andrea M; Amoroso, Antonio; Mari, Francesca; Furini, Simone; Mondelli, Mario U; Gen-Covid Multicenter Study, Null; Chiariello, Mario; Renieri, Alessandra; Meloni, Ilaria | |
| PEGYLATION, THE ULTIMATE STRATEGY TO IMPROVE THE IN VIVO EFFICIENCY OF BIOACTIVE COMPOUNDS | 2.1 Contributo in volume (Capitolo o Saggio) | 2019 | Bernard, Degryse; Eden, Gabriele; Archinti, Marco; Andreotti, Giuseppina; Citro, Valentina; Murphy, Ronan P.; Cubellis, MARIA VITTORIA; Furlan, Federico | |
| Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease | 1.1 Articolo in rivista | 2020 | Seemann, S.; Ernst, M.; Cimmaruta, C.; Struckmann, S.; Cozma, C.; Koczan, D.; Knospe, A. -M.; Haake, L. R.; Citro, V.; Brauer, A. U.; Andreotti, G.; Cubellis, M. V.; Fuellen, G.; Hermann, A.; Giese, A. -K.; Rolfs, A.; Lukas, J. | |
| Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in fabry disease | 1.1 Articolo in rivista | 2020 | Lukas, J.; Cimmaruta, C.; Liguori, L.; Pantoom, S.; Iwanov, K.; Petters, J.; Hund, C.; Bunschkowski, M.; Hermann, A.; Cubellis, M. V.; Rolfs, A. | |
| β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG | 1.1 Articolo in rivista | 2019 | Monticelli, M; Liguori, L; Allocca, M; Andreotti, G; Cubellis, Mv. | |
| The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype | 1.1 Articolo in rivista | 2019 | Sparago, A.; Verma, A.; Patricelli, M. G.; Pignata, L.; Russo, S.; Calzari, L.; De Francesco, N.; Del Prete, R.; Palumbo, O.; Carella, M.; Mackay, D. J. G.; Rezwan, F. I.; Angelini, C.; Cerrato, F.; Cubellis, M. V.; Riccio, A. | |
| Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor | 1.1 Articolo in rivista | 2019 | Furlan, Federico; Eden, Gabriele; Archinti, Marco; Arnaudova, Ralitsa; Andreotti, Giuseppina; Citro, Valentina; Cubellis, Maria Vittoria; Motta, Andrea; Degryse, Bernard | |
| Pharmacological chaperones: A therapeutic approach for diseases caused by destabilizing missense mutations | 1.1 Articolo in rivista | 2020 | Liguori, L.; Monticelli, M.; Allocca, M.; Mele, B. H.; Lukas, J.; Cubellis, M. V.; Andreotti, G. | |
| Bioinformatics tools for marine biotechnology: A practical tutorial with a metagenomic approach | 1.1 Articolo in rivista | 2020 | Liguori, L.; Monticelli, M.; Allocca, M.; Cubellis, M. V.; Hay Mele, B. | |
| Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones | 1.1 Articolo in rivista | 2022 | Monticelli, Maria; Liguori, Ludovica; Allocca, Mariateresa; Bosso, Andrea; Andreotti, Giuseppina; Lukas, Jan; Monti, Maria Chiara; Morretta, Elva; Cubellis, Maria Vittoria; Hay Mele, Bruno | |
| Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women | 1.1 Articolo in rivista | 2021 | Monticelli, M.; Hay Mele, B.; Benetti, E.; Fallerini, C.; Baldassarri, M.; Furini, S.; Frullanti, E.; Mari, F.; Andreotti, G.; Cubellis, M. V.; Renieri, A. | |
| Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19 | 1.1 Articolo in rivista | 2021 | Monticelli, M.; Hay Mele, B.; Andreotti, G.; Cubellis, M. V.; Riccio, G. | |
| Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances | 1.1 Articolo in rivista | 2022 | Pignata, Laura; Cecere, Francesco; Verma, Ankit; Hay Mele, Bruno; Monticelli, Maria; Acurzio, Basilia; Giaccari, Carlo; Sparago, Angela; Hernandez Mora, Jose Ramon; Monteagudo-Sánchez, Ana; Esteller, Manel; Pereda, Arrate; Tenorio-Castano, Jair; Palumbo, Orazio; Carella, Massimo; Prontera, Paolo; Piscopo, Carmelo; Accadia, Maria; Lapunzina, Pablo; Cubellis, Maria Vittoria; de Nanclares, Guiomar Perez; Monk, David; Riccio, Andrea; Cerrato, Flavia | |
| Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol | 1.1 Articolo in rivista | 2022 | Pantoom, Supansa; Hules, Larissa; Schöll, Christopher; Petrosyan, Andranik; Monticelli, Maria; Pospech, Jola; Cubellis, Maria Vittoria; Hermann, Andreas; Lukas, Jan | |
| Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 | 1.1 Articolo in rivista | 2015 | Andreotti, Giuseppina; Monti, Maria Chiara; Citro, Valentina; Cubellis, MARIA VITTORIA | |
| A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. | 1.1 Articolo in rivista | 2015 | A. D., Crescenzo; V., Citro; A., Freschi; A., Sparago; O., Palumbo; Cubellis, MARIA VITTORIA; M., Carella; P., Castelluccio; M. L., Cavaliere; F., Cerrato; A., Riccio | |
| Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance | 1.1 Articolo in rivista | 2020 | Cubellis, M. V.; Pignata, L.; Verma, A.; Sparago, A.; Del Prete, R.; Monticelli, M.; Calzari, L.; Antona, V.; Melis, D.; Tenconi, R.; Russo, S.; Cerrato, F.; Riccio, A. |