Sfoglia per Autore
In silico docking of urokinase plasminogen activator and integrins
2008 B. Degryse, J. Fernandez-Recio, V. Citro, F. Blasi, M.V. Cubellis
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour
2008 F. Cerrato, A. Sparago, G. Verde, A. De Crescenzo, V. Citro, M.V. Cubellis, M.M. Rinaldi, L. Boccuto, G. Neri, C. Magnani, P. D'Angelo, P. Collini, D. Perotti, G. Sebastio, E.R. Maher, A. Riccio
Inherited and sporadic epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor
2009 A. Riccio, A. Sparago, G. Verde, A. De Crescenzo, V. Citro, M.V. Cubellis, G.B. Ferrero, M. C. Silengo, S. Russo, L. Larizza, F. Cerrato
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
2011 G. Andreotti, V. Citro, A. De Crescenzo, P. Orlando, M. Cammisa, A. Correra, M.V. Cubellis
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
2013 J. Beygo, V. Citro, A. Sparago, A. De crescenzo, F. Cerrato, M. Heitmann, K. Rademacher, A. Guala, T. Enklaar, C. Anichini, M. Cirillo silengo, N. Graf, D. Prawitt, M.V. Cubellis, B. Horsthemke, K. Buiting, A. Riccio
A thermodynamic assay to test pharmacological chaperones for Fabry disease
2014 G. Andreotti, V. Citro, A. Correra, M.V. Cubellis
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype
2015 A. De Crescenzo, V. Citro, A. Freschi, A. Sparago, O. Palumbo, M.V. Cubellis, M. Carella, P. Castelluccio, M.L. Cavaliere, F. Cerrato, A. Riccio
Heterodimerization of two pathological mutants enhances the activity of human phosphomannomutase2
2015 G. Andreotti, M.C. Monti, V. Citro, M.V. Cubellis
Drug repositioning can accelerate discovery of pharmacological chaperones
2015 B. Hay Mele, V. Citro, G. Andreotti, M.V. Cubellis
The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A Meta-Analysis can help to differentiate missense mutations
2016 V. Citro, M. Cammisa, L. Liguori, C. Cimmaruta, J. Lukas, M. Vittoria, G. Andreotti
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
2016 V. Citro, J. Peña-García, H. den-Haan, H. Pérez-Sánchez, R. Del Prete, L. Liguori, C. Cimmaruta, J. Lukas, M.V. Cubellis, G. Andreotti
E-Learning for Rare Diseases: An Example Using Fabry Disease
2017 C. Cimmaruta, L. Liguori, M. Monticelli, G. Andreotti, V. Citro
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP : possible implications for the disease PMM2-CDG
2017 V. Citro, C. Cimmaruta, L. Liguori, G. Viscido, M.V. Cubellis, G. Andreotti
In vitro enzyme measurement to test pharmacological Chaperone responsiveness in Fabry and Pompe Disease
2017 J. Lukas, A. Knospe, S. Seemann, V. Citro, M.V. Cubellis, A. Rolfs
D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo
2018 F. Furlan, G. Eden, M. Archinti, R. Arnaudova, G. Andreotti, V. Citro, M.V. Cubellis, A. Motta, B. Degryse
D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR
2018 G. Eden, M. Archinti, R. Arnaudova, G. Andreotti, A. Motta, F. Furlan, V. Citro, M.V. Cubellis, B. Degryse
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 V. Citro, C. Cimmaruta, M. Monticelli, G. Riccio, B.H. Mele, M.V. Cubellis, G. Andreotti
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
2018 C. Cimmaruta, V. Citro, G. Andreotti, L. Liguori, M.V. Cubellis, B. Hay Mele
Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor
2019 F. Furlan, G. Eden, M. Archinti, R. Arnaudova, G. Andreotti, V. Citro, M.V. Cubellis, A. Motta, B. Degryse
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease
2020 S. Seemann, M. Ernst, C. Cimmaruta, S. Struckmann, C. Cozma, D. Koczan, A.M. Knospe, L.R. Haake, V. Citro, A.U. Brauer, G. Andreotti, M.V. Cubellis, G. Fuellen, A. Hermann, A.K. Giese, A. Rolfs, J. Lukas
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile