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Mostrati risultati da 1 a 20 di 115
Titolo Tipologia Data di pubblicazione Autore(i) File
ReBaTSA: A simplified CeTSA protocol for studying recombinant mutant proteins in bacterial extracts 1.1 Articolo in rivista 2024 Monticelli, Maria; Wright, Demi Marie; Cubellis, Maria Vittoria; Andreotti, Giuseppina
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat 1.1 Articolo in rivista 2024 Hay Mele, Bruno; Rossetti, Federica; Cubellis, Maria Vittoria; Monticelli, Maria; Andreotti, Giuseppina
Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation 1.1 Articolo in rivista 2024 Monticelli, Maria; Hay Mele, Bruno; Wright, Demi Marie; Guerriero, Simone; Andreotti, Giuseppina; Cubellis, Maria Vittoria
A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos 1.1 Articolo in rivista 2024 Giaccari, Carlo; Cecere, Francesco; Argenziano, Lucia; Pagano, Angela; Galvao, Antonio; Acampora, Dario; Rossi, Gianna; Hay Mele, Bruno; Acurzio, Basilia; Coonrod, Scott; Cubellis, Maria Vittoria; Cerrato, Flavia; Andrews, Simon; Cecconi, Sandra; Kelsey, Gavin; Riccio, Andrea
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.
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
Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment 1.1 Articolo in rivista 2023 Larizza, Lidia; Cubellis, MARIA VITTORIA
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
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
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
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.
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy 1.1 Articolo in rivista 2021 Fatemi, N.; Salehi, N.; Pignata, L.; Palumbo, P.; Cubellis, M. V.; Ramazanali, F.; Ray, P.; Varkiani, M.; Reyhani-Sabet, F.; Biglari, A.; Sparago, A.; Acurzio, B.; Palumbo, O.; Carella, M.; Riccio, A.; Totonchi, M.
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.
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.
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.
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.
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.
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.
Mostrati risultati da 1 a 20 di 115
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