The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations von Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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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... von Citro, Valentina, Cimmaruta, Chiara, Monticelli, Maria, Riccio, Guglielmo, Hay Mele, Bruno, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2 von Andreotti, Giuseppina, Monti, Maria Chiara, Citro, Valentina, Cubellis, Maria Vittoria

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Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment von Larizza, Lidia, Cubellis, Maria Vittoria

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A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG von Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations von Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Mele, Bruno Hay, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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

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Genetic and reproductive consequences of consanguineous marriage in Bangladesh von Anwar, Saeed, Taslem, Jarin, Arafat, Yasir, Hosen, Mohammad Jakir

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Congenital disorders of glycosylation: narration of a story through its patents von Monticelli, Maria, D'Onofrio, Tania, Jaeken, Jaak, Morava, Eva, Andreotti, Giuseppina, Cubellis, Maria Vittoria

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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... von Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria

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Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones von Cammisa, Marco, Correra, Antonella, Andreotti, Giuseppina, Cubellis, Maria Vittoria

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Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol von Pantoom, Supansa, Hules, Larissa, Schöll, Christopher, Petrosyan, Andranik, Monticelli, Maria, Pospech, Jola, Cubellis, Maria Vittoria, Hermann, Andreas, Lukas, Jan

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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease von Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clemence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, Francois, Ly, Kim-Heang, Besson, Gerard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Helene, Lidove, Olivier

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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease von Monticelli, Maria, Hay Mele, Bruno, Allocca, Mariateresa, Liguori, Ludovica, Lukas, Jan, Monti, Maria Chiara, Morretta, Elva, Cubellis, Maria Vittoria, Andreotti, Giuseppina

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Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach von Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Cubellis, Maria Vittoria, Mele, Bruno Hay

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study von Andreotti, Giuseppina, Guarracino, Mario R, Cammisa, Marco, Correra, Antonella, Cubellis, Maria Vittoria

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CDKN1C mutations: two sides of the same coin von Eggermann, Thomas, Binder, Gerhard, Brioude, Frédéric, Maher, Eamonn R, Lapunzina, Pablo, Cubellis, Maria Vittoria, Bergadá, Ignacio, Prawitt, Dirk, Begemann, Matthias

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease von Lukas, Jan, Knospe, Anne-Marie, Seemann, Susanne, Citro, Valentina, Cubellis, Maria V, Rolfs, Arndt

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A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype von De Crescenzo, Agostina, Citro, Valentina, Freschi, Andrea, Sparago, Angela, Palumbo, Orazio, Cubellis, Maria Vittoria, Carella, Massimo, Castelluccio, Pia, Cavaliere, Maria Luigia, Cerrato, Flavia, Riccio, Andrea

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Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase von Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno

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