Chiara Cimmaruta

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

Valentina Citro, Chiara Cimmaruta, Maria Monticelli et al. · International Journal of Molecular Sciences · 2018 · 40 citations · Full text

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

Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti et al. · BMC Bioinformatics · 2018 · 31 citations · Full text

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

Valentina Citro, Jorge Peña‐García, Helena den-Haan et al. · PLoS ONE · 2016 · 30 citations · Full text

Drug Target, Glycobiology, Allosteric Binding Site +20

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

Jan Lukáš, Chiara Cimmaruta, Ludovica Liguori et al. · International Journal of Molecular Sciences · 2020 · 24 citations · Full text

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

Susanne Seemann, Mathias Ernst, Chiara Cimmaruta et al. · Biochemical Journal · 2020 · 23 citations · Full text

Molecular Regulation, Genetics, Effective Prs +23