Valentina Citro

Naples, 80126, Italy

Last Updated: 09/26/2026

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Found 15 publications

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

Journal: The Biochemical journal

Published: July 17, 2019

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

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

Journal: BMC bioinformatics

Published: December 01, 2018

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.

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.

Journal: International journal of molecular sciences

Published: May 30, 2018

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

Journal: Journal of visualized experiments : JoVE

Published: December 30, 2017

Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor.

Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor.

Journal: Data in brief

Published: December 20, 2017

D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo.

D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo.

Journal: Peptides

Published: October 08, 2017

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

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

Journal: International journal of molecular sciences

Published: September 13, 2017

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

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

Journal: PloS one

Published: July 26, 2017

D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR.

D2A sequence of the urokinase receptor induces cell growth through αvβ3 integrin and EGFR.

Journal: Cellular and molecular life sciences : CMLS

Published: April 08, 2017

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

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

Journal: International journal of molecular sciences

Published: October 09, 2016

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

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

Journal: PloS one

Published: May 10, 2016

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.

Journal: PloS one

Published: June 25, 2015

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Last Updated: 09/26/2026