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MONTICELLI, MARIA

MONTICELLI, MARIA  

DIPARTIMENTO DI BIOLOGIA  

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Looking for protein stabilizing drugs with thermal shift assay. 1.1 Articolo in rivista 2015 Andreotti, G.; Monticelli, M.; Cubellis, MARIA VITTORIA
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.
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
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
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.
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
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.
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.
Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the Burkholderia cepacia Complex 1.1 Articolo in rivista 2022 Bosso, A.; Gaglione, R.; Di Girolamo, R.; Veldhuizen, E. J. A.; Garcia-Vello, P.; Fusco, S.; Cafaro, V.; Monticelli, M.; Culurciello, R.; Notomista, E.; Arciello, A.; Pizzo, E.
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective 1.1 Articolo in rivista 2022 Monticelli, M.; Francisco, R.; Brasil, S.; Marques-da-Silva, D.; Rijoff, T.; Pascoal, C.; Jaeken, J.; Videira, P. A.; dos Reis Ferreira, V.
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature 1.1 Articolo in rivista 2017 Marques-da-Silva, D; Dos Reis Ferreira, V; Monticelli, M; Janeiro, P; Videira, P A; Witters, P; Jaeken, J; Cassiman, D
Immunological aspects of congenital disorders of glycosylation (CDG): a review 1.1 Articolo in rivista 2016 Monticelli, Maria; Ferro, Tiago; Jaeken, Jaak; Dos Reis Ferreira, Vanessa; Videira, Paula A
Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease 1.1 Articolo in rivista 2022 Vignogna, R. C.; Allocca, M.; Monticelli, M.; Norris, J. W.; Steet, R.; Perlstein, E. O.; Andreotti, G.; Lang, G. I.
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 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
E-Learning for Rare Diseases: An Example Using Fabry Disease 1.1 Articolo in rivista 2017 Cimmaruta, Chiara; Liguori, Ludovica; Monticelli, Maria; Andreotti, Giuseppina; Citro, Valentina
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; Monti, Maria Chiara; Morretta, Elva; Cubellis, MARIA VITTORIA; Andreotti, Giuseppina
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.
Oxidoreductases and metal cofactors in the functioning of the earth 1.1 Articolo in rivista 2023 Hay Mele, Bruno; Monticelli, Maria; Leone, Serena; Bastoni, Deborah; Barosa, Bernardo; Cascone, Martina; Migliaccio, Flavia; Montemagno, Francesco; Ricciardelli, Annarita; Tonietti, Luca; Rotundi, Alessandra; Cordone, Angelina; Giovannelli, Donato
Congenital disorders of glycosylation: narration of a story through its patents 1.1 Articolo in rivista 2023 Monticelli, M.; D'Onofrio, T.; Jaeken, J.; Morava, E.; Andreotti, G.; Cubellis, M. V.