Taming molecular flexibility to tackle rare diseases

por Cubellis, Maria Vittoria, Baaden, Marc, Andreotti, Giuseppina
Publicado en Biochimie (2015)

Looking for protein stabilizing drugs with thermal shift assay

por Andreotti, Giuseppina, Monticelli, Maria, Cubellis, Maria Vittoria
Publicado en Drug Test Anal (2015)

Identification and analysis of conserved pockets on protein surfaces

por Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Publicado 2013

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

por Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Publicado 2013

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

por Andreotti, Giuseppina, Pedone, Emilia, Giordano, Assunta, Cubellis, Maria Vittoria
Publicado 2013

A thermodynamic assay to test pharmacological chaperones for Fabry disease()

por Andreotti, Giuseppina, Citro, Valentina, Correra, Antonella, Cubellis, Maria Vittoria
Publicado 2014

Drug repositioning can accelerate discovery of pharmacological chaperones

por Hay Mele, Bruno, Citro, Valentina, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Publicado en Orphanet J Rare Dis (2015)

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2

por Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria
Publicado en PLoS One (2015)

E-Learning for Rare Diseases: An Example Using Fabry Disease

por Cimmaruta, Chiara, Liguori, Ludovica, Monticelli, Maria, Andreotti, Giuseppina, Citro, Valentina
Publicado en Int J Mol Sci (2017)

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Diso...

por Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Publicado en Int J Mol Sci (2019)

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

por Andreotti, Giuseppina, Guarracino, Mario R, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria
Publicado 2010

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19

por Monticelli, Maria, Mele, Bruno Hay, Andreotti, Giuseppina, Cubellis, Maria Vittoria, Riccio, Guglielmo
Publicado en Eur J Med Genet (2021)

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG

por Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Publicado en PLoS One (2017)

Converting the Highly Amyloidogenic Human Calcitonin into a Powerful Fibril Inhibitor by Three-dimensional Structure Homology with a Non-amyloidogenic Analogue

por Andreotti, Giuseppina, Vitale, Rosa Maria, Avidan-Shpalter, Carmit, Amodeo, Pietro, Gazit, Ehud, Motta, Andrea
Publicado 2011

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

por Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno
Publicado en BMC Bioinformatics (2018)

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

por Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Publicado en Int J Mol Sci (2016)

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

por Cammisa Marco, Orlando Pierangelo, De Crescenzo Agostina, Citro Valentina, Andreotti Giuseppina, Correra Antonella, Cubellis Maria Vittoria
Publicado 2011-10-01

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

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

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

por Andreotti, Giuseppina, Cabeza de Vaca, Israel, Poziello, Angelita, Monti, Maria Chiara, Guallar, Victor, Cubellis, Maria Vittoria
Publicado en J Biol Chem (2014)

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...

por Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Publicado en Int J Mol Sci (2018)