Ludovica Liguori

发表

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

M. Cubellis, J. Lukas, H. Pérez‐Sánchez, 2016, PloS one.

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

M. Cubellis, J. Lukas, B. Hay Mele, 2022, International journal of molecular sciences.

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

M. Cubellis, Valentina Citro, Ludovica Liguori, 2017, PloS one.

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

M. Cubellis, B. Hay Mele, Valentina Citro, 2018, BMC Bioinformatics.

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

M. Monticelli, Valentina Citro, Ludovica Liguori, 2017, International journal of molecular sciences.

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

A. Rolfs, M. Cubellis, J. Lukas, 2020, International journal of molecular sciences.

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

M. Cubellis, J. Lukas, Marco Cammisa, 2016, International journal of molecular sciences.

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

M. Cubellis, J. Lukas, B. Hay Mele, 2020, International journal of molecular sciences.

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

M. Cubellis, M. Monticelli, Mariateresa Allocca, 2019, International journal of molecular sciences.

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, 2020, BMC Bioinformatics.

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

M. Cubellis, J. Lukas, B. Hay Mele, 2023, International journal of molecular sciences.

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

M. Cubellis, B. Hay Mele, Valentina Citro, 2018, BMC Bioinformatics.