Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Hay Mele, Bruno, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published in International journal of molecular sciences (13.01.2020)
Published in International journal of molecular sciences (13.01.2020)
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Journal Article
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
Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria
Published in International journal of molecular sciences (26.08.2019)
Published in International journal of molecular sciences (26.08.2019)
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Journal Article
CDG Therapies: From Bench to Bedside
Brasil, Sandra, Pascoal, Carlota, Francisco, Rita, Marques-da-Silva, Dorinda, Andreotti, Giuseppina, Videira, Paula A, Morava, Eva, Jaeken, Jaak, Dos Reis Ferreira, Vanessa
Published in International journal of molecular sciences (27.04.2018)
Published in International journal of molecular sciences (27.04.2018)
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Journal Article
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
Iacobucci, Ilaria, Hay Mele, Bruno, Cozzolino, Flora, Monaco, Vittoria, Cimmaruta, Chiara, Monti, Maria, Andreotti, Giuseppina, Monticelli, Maria
Published in International journal of molecular sciences (25.02.2023)
Published in International journal of molecular sciences (25.02.2023)
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Journal Article
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease
Monticelli, Maria, Hay Mele, Bruno, Allocca, Mariateresa, Liguori, Ludovica, Lukas, Jan, Monti, Maria Chiara, Morretta, Elva, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published in International journal of molecular sciences (06.01.2023)
Published in International journal of molecular sciences (06.01.2023)
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Journal Article
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
Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published in International journal of molecular sciences (30.07.2018)
Published in International journal of molecular sciences (30.07.2018)
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Journal Article
A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published in PloS one (19.12.2017)
Published in PloS one (19.12.2017)
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Journal Article
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2
Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria
Published in PloS one (21.10.2015)
Published in PloS one (21.10.2015)
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Journal Article
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno
Published in BMC bioinformatics (30.11.2018)
Published in BMC bioinformatics (30.11.2018)
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Journal Article
Rational Design, Synthesis, Characterization and Evaluation of Iodinated 4,4'-Bipyridines as New Transthyretin Fibrillogenesis Inhibitors
Dessì, Alessandro, Peluso, Paola, Dallocchio, Roberto, Weiss, Robin, Andreotti, Giuseppina, Allocca, Mariateresa, Aubert, Emmanuel, Pale, Patrick, Mamane, Victor, Cossu, Sergio
Published in Molecules (Basel, Switzerland) (08.05.2020)
Published in Molecules (Basel, Switzerland) (08.05.2020)
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Journal Article
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
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 in PloS one (27.10.2016)
Published in PloS one (27.10.2016)
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Journal Article
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
Brasil, Sandra, Allocca, Mariateresa, Magrinho, Salvador C M, Santos, Inês, Raposo, Madalena, Francisco, Rita, Pascoal, Carlota, Martins, Tiago, Videira, Paula A, Pereira, Florbela, Andreotti, Giuseppina, Jaeken, Jaak, Kantautas, Kristin A, Perlstein, Ethan O, Ferreira, Vanessa Dos Reis
Published in International journal of molecular sciences (05.08.2022)
Published in International journal of molecular sciences (05.08.2022)
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Journal Article
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina
Published in International journal of molecular sciences (01.12.2016)
Published in International journal of molecular sciences (01.12.2016)
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Journal Article
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones
Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Bosso, Andrea, Andreotti, Giuseppina, Lukas, Jan, Monti, Maria Chiara, Morretta, Elva, Cubellis, Maria Vittoria, Hay Mele, Bruno
Published in International journal of molecular sciences (04.05.2022)
Published in International journal of molecular sciences (04.05.2022)
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Journal Article
E-Learning for Rare Diseases: An Example Using Fabry Disease
Cimmaruta, Chiara, Liguori, Ludovica, Monticelli, Maria, Andreotti, Giuseppina, Citro, Valentina
Published in International journal of molecular sciences (24.09.2017)
Published in International journal of molecular sciences (24.09.2017)
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Journal Article
A thermodynamic assay to test pharmacological chaperones for Fabry disease
Andreotti, Giuseppina, Citro, Valentina, Correra, Antonella, Cubellis, Maria Vittoria
Published in Biochimica et biophysica acta (01.03.2014)
Published in Biochimica et biophysica acta (01.03.2014)
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Journal Article
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Andreotti, Giuseppina, Guarracino, Mario R, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria
Published in Orphanet journal of rare diseases (07.12.2010)
Published in Orphanet journal of rare diseases (07.12.2010)
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Journal Article
Marine glycosyl hydrolases in the hydrolysis and synthesis of oligosaccharides
Giordano, Assunta, Andreotti, Giuseppina, Tramice, Annabella, Trincone, Antonio
Published in Biotechnology journal (01.05.2006)
Published in Biotechnology journal (01.05.2006)
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