Associated Papers
Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.
Markaki SP et al.
Cells, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
Genotype-Phenotype Spectrum of 52 Mexican Patients With Fabry Disease: A Novel GLA Variant With Atypical Phenotype.
Kimball TN et al.
Molecular Genetics & Genomic Medicine, 2024
Reducing agalsidase beta infusion time in Fabry patients: low incidence of antibody formation and infusion-associated reactions in an Italian multicenter study.
Mignani R et al.
Orphanet Journal of Rare Diseases, 2024
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Consolato F et al.
Molecular Genetics and Metabolism Reports, 2022
Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.
Braunstein H et al.
International Journal of Molecular Sciences, 2020
Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases.
Ivanova M
Journal of Clinical Medicine, 2020
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
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
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.
Lukas J et al.
Journal of Visualized Experiments : Jove, 2017
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
Mutational analysis of the GLA gene in Mexican families with Fabry disease.
Gutiérrez-Amavizca BE et al.
Journal of Genetics, 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
Clinical, histological and molecular characteristics of Mexican patients with Fabry disease and significant renal involvement.
Ramos-Kuri M et al.
Archives of Medical Research, 2014
Cornea verticillata and Fabry disease.
Spada M et al.
The Journal of Pediatrics, 2013
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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.
Fan JQ
Biological Chemistry, 2008
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Sugawara K et al.
Journal of Human Genetics, 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
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease.
Sawkar AR et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Matsuzawa F et al.
Human Genetics, 2005
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Okumiya T et al.
Human Mutation, 1998
Missense mutation in exon 2 of alpha-galactosidase A in a patient with Fabry disease.
Ishida S et al.
Archives of Dermatological Research, 1997
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Okumiya T et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1997
[Fabry disease (alpha-galactosidase deficiency)].
Okumiya T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Okumiya T et al.
Human Genetics, 1995