Associated Papers
Lysosomal Storage-Independent Fabry Disease Variants with α-Galactosidase A Misprocessing-Induced ER Stress and the Unfolded Protein Response.
Živná M et al.
Nephron, 2025
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 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
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
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
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
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
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
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.
Patel V et al.
Heart (british Cardiac Society), 2015
Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants.
Yu Y et al.
Acs Chemical Biology, 2014
Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2014
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J et al.
Plos Genetics, 2013
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2011
A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.
Fan JQ
Biological Chemistry, 2008
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ et al.
The Febs Journal, 2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.
Yoshitama T et al.
The American Journal of Cardiology, 2001
Fucosidosis: genetic and biochemical analysis of eight cases.
Cragg H et al.
Journal of Medical Genetics, 1997
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
Nakao S et al.
The New England Journal of Medicine, 1995
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989