Sfoglia per Autore
In silico docking of urokinase plasminogen activator and integrins
2008-01-01 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
2008-01-01 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
2009-01-01 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
2011-01-01 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
2013-01-01 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
2014-01-01 G. Andreotti, V. Citro, A. Correra, M.V. Cubellis
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype
2015-01-01 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
2015-01-01 G. Andreotti, M.C. Monti, V. Citro, M.V. Cubellis
Drug repositioning can accelerate discovery of pharmacological chaperones
2015-01-01 B. Hay Mele, V. Citro, G. Andreotti, M.V. Cubellis
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
2016-01-01 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
The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A Meta-Analysis can help to differentiate missense mutations
2016-01-01 V. Citro, M. Cammisa, L. Liguori, C. Cimmaruta, J. Lukas, M. Vittoria, G. Andreotti
E-Learning for Rare Diseases: An Example Using Fabry Disease
2017-09-24 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
2017-12-19 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
2017-12-20 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
2018-03-01 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
2018-05-01 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
2018-07-30 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
2018-11-30 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
2019-02-01 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
2020-01-31 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
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