Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease.
Li P et al.
Cells, 2024
Nonvascular Parkinsonism in Fabry Disease: Results From Magnetic Resonance and Dopamine Transporter Imaging.
Russo C et al.
Journal of Neuropathology and Experimental Neurology, 2021
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
UniProt genomic mapping for deciphering functional effects of missense variants.
McGarvey PB et al.
Human Mutation, 2019
A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.
Li P et al.
Frontiers in Genetics, 2019
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.
Ferri L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Di Martino MT et al.
Oncotarget, 2016
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Molecular and clinical studies in five index cases with novel mutations in the GLA gene.
Zizzo C et al.
Gene, 2016
Antiproteinuric effect of add-on paricalcitol in Fabry disease patients: a prospective observational study.
Pisani A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2015