Search Results - "Liguori, Ludovica"

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

“…The term "pharmacological chaperone" was introduced 20 years ago. Since then the approach with this type of drug has been proposed for several diseases,…”
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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 Disorder of Glycosylation, PMM2-CDG by Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Andreotti, Giuseppina, Cubellis, Maria Vittoria

“…A large number of mutations causing PMM2-CDG, which is the most frequent disorder of glycosylation, destabilize phosphomannomutase2. We looked for a…”
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Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach by Liguori, Ludovica, Monticelli, Maria, Allocca, Mariateresa, Cubellis, Maria Vittoria, Hay Mele, Bruno

“…Bioinformatics has pervaded all fields of biology and has become an indispensable tool for almost all research projects. Although teaching bioinformatics has…”
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Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease by Monticelli, Maria, Hay Mele, Bruno, Allocca, Mariateresa, Liguori, Ludovica, Lukas, Jan, Monti, Maria Chiara, Morretta, Elva, Cubellis, Maria Vittoria, Andreotti, Giuseppina

“…Fabry disease is a lysosomal storage disease caused by mutations in the gene that encodes alpha-galactosidase (AGAL). The disease causes abnormal…”
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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 by Citro, Valentina, Cimmaruta, Chiara, Liguori, Ludovica, Viscido, Gaetano, Cubellis, Maria Vittoria, Andreotti, Giuseppina

“…The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both…”
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Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase by Cimmaruta, Chiara, Citro, Valentina, Andreotti, Giuseppina, Liguori, Ludovica, Cubellis, Maria Vittoria, Hay Mele, Bruno

“…Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter…”
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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease by Lukas, Jan, Cimmaruta, Chiara, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, Cubellis, Maria Vittoria, Rolfs, Arndt

“…Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal α-galactosidase A (α-Gal A) and…”
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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 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

“…Personalized therapies are required for Fabry disease due to its large phenotypic spectrum and numerous different genotypes. In principle, missense mutations…”
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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

“…Fabry disease is caused by mutations in the gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem…”
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Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones by Monticelli, Maria, Liguori, Ludovica, Allocca, Mariateresa, Bosso, Andrea, Andreotti, Giuseppina, Lukas, Jan, Monti, Maria Chiara, Morretta, Elva, Cubellis, Maria Vittoria, Hay Mele, Bruno

“…Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry…”
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E-Learning for Rare Diseases: An Example Using Fabry Disease by Cimmaruta, Chiara, Liguori, Ludovica, Monticelli, Maria, Andreotti, Giuseppina, Citro, Valentina

“…Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases…”
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The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutationsf by Citro, Valentina, Cammisa, Marco, Liguori, Ludovica, Cimmaruta, Chiara, Lukas, Jan, Cubellis, Maria Vittoria, Andreotti, Giuseppina

“…Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special…”
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