Taming molecular flexibility to tackle rare diseases

by Cubellis, Maria Vittoria, Baaden, Marc, Andreotti, Giuseppina
Published 2015

Secondary structure assignment that accurately reflects physical and evolutionary characteristics

by Cubellis, Maria Vittoria, Cailliez, Fabien, Lovell, Simon C
Published 2005

Identification and analysis of conserved pockets on protein surfaces

by Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Published 2013

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

by Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Published 2013

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

by Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria
Published 2013

A thermodynamic assay to test pharmacological chaperones for Fabry disease☆

by Andreotti, Giuseppina, Citro, Valentina, Correra, Antonella, Cubellis, Maria Vittoria
Published 2014

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

by Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria
Published 2015

Drug repositioning can accelerate discovery of pharmacological chaperones

by Hay Mele, Bruno, Citro, Valentina, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Published 2015

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

by Andreotti, Giuseppina, Citro, Valentina, De Crescenzo, Agostina, Orlando, Pierangelo, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria
Published 2011

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations

by Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published 2016

Conformational Response to Ligand Binding in Phosphomannomutase2: INSIGHTS INTO INBORN GLYCOSYLATION DISORDER*

by Andreotti, Giuseppina, Cabeza de Vaca, Israel, Poziello, Angelita, Monti, Maria Chiara, Guallar, Victor, Cubellis, Maria Vittoria
Published 2014

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

by Citro, Valentina, Peña-García, Jorge, den-Haan, Helena, Pérez-Sánchez, Horacio, Del Prete, Rosita, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published 2016

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

by Colombo, Elisa Adele, Spaccini, Luigina, Volpi, Ludovica, Negri, Gloria, Cittaro, Davide, Lazarevic, Dejan, Zirpoli, Salvatore, Farolfi, Andrea, Gervasini, Cristina, Cubellis, Maria Vittoria, Larizza, Lidia
Published 2016

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases

by Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista
Published 2012

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

by Beygo, Jasmin, Citro, Valentina, Sparago, Angela, De Crescenzo, Agostina, Cerrato, Flavia, Heitmann, Melanie, Rademacher, Katrin, Guala, Andrea, Enklaar, Thorsten, Anichini, Cecilia, Cirillo Silengo, Margherita, Graf, Notker, Prawitt, Dirk, Cubellis, Maria Vittoria, Horsthemke, Bernhard, Buiting, Karin, Riccio, Andrea
Published 2013