Chiara Cimmaruta

Via Cinthia
Naples, 80126, Italy

Last Updated: 09/26/2026

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Found 11 publications

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.

Journal: International journal of molecular sciences

Published: January 14, 2023

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

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

Journal: International journal of molecular sciences

Published: December 21, 2019

Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.

Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.

Journal: Stem cell research

Published: November 27, 2019

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

Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.

Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.

Journal: Stem cell research

Published: July 15, 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

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

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

Showing 1-11 of 11

Last Updated: 09/26/2026