Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
Clinical Kidney Journal
de Haan, Amber A; Morel, Chantal F CF; Eijgelsheim, Mark M; de Jong, Margriet F C MFC; Broekroelofs, Jan J; Vogt, Liffert L; Knoers, Nine V A M NVAM; de Borst, Martin H MH
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Molecular Genetics And Metabolism Reports
Consolato, Francesco F; De Fusco, Maurizio M; Schaeffer, Céline C; Pieruzzi, Federico F; Scolari, Francesco F; Gallieni, Maurizio M; Lanzani, Chiara C; Feriozzi, Sandro S; Rampoldi, Luca L
Generation of GLA-Knockout Human Embryonic Stem Cell Lines to Model Autophagic Dysfunction and Exosome Secretion in Fabry Disease-Associated Hypertrophic Cardiomyopathy.
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Molecular Genetics & Genomic Medicine
Germain, Dominique P DP; Brand, Eva E; Burlina, Alessandro A; Cecchi, Franco F; Garman, Scott C SC; Kempf, Judy J; Laney, Dawn A DA; Linhart, Aleš A; Maródi, László L; Nicholls, Kathy K; Ortiz, Alberto A; Pieruzzi, Federico F; Shankar, Suma P SP; Waldek, Stephen S; Wanner, Christoph C; Jovanovic, Ana A
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
International Journal Of Molecular Sciences
Citro, Valentina V; Cammisa, Marco M; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Journal Of Medical Genetics
Hughes, Derralynn A DA; Nicholls, Kathleen K; Shankar, Suma P SP; Sunder-Plassmann, Gere G; Koeller, David D; Nedd, Khan K; Vockley, Gerard G; Hamazaki, Takashi T; Lachmann, Robin R; Ohashi, Toya T; Olivotto, Iacopo I; Sakai, Norio N; Deegan, Patrick P; Dimmock, David D; Eyskens, François F; Germain, Dominique P DP; Goker-Alpan, Ozlem O; Hachulla, Eric E; Jovanovic, Ana A; Lourenco, Charles M CM; Narita, Ichiei I; Thomas, Mark M; Wilcox, William R WR; Bichet, Daniel G DG; Schiffmann, Raphael R; Ludington, Elizabeth E; Viereck, Christopher C; Kirk, John J; Yu, Julie J; Johnson, Franklin F; Boudes, Pol P; Benjamin, Elfrida R ER; Lockhart, David J DJ; Barlow, Carrolee C; Skuban, Nina N; Castelli, Jeffrey P JP; Barth, Jay J; Feldt-Rasmussen, Ulla U
Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.
Orphanet Journal Of Rare Diseases
Lenders, Malte M; Weidemann, Frank F; Kurschat, Christine C; Canaan-Kühl, Sima S; Duning, Thomas T; Stypmann, Jörg J; Schmitz, Boris B; Reiermann, Stefanie S; Krämer, Johannes J; Blaschke, Daniela D; Wanner, Christoph C; Brand, Stefan-Martin SM; Brand, Eva E
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Orphanet Journal Of Rare Diseases
Schelleckes, Michael M; Lenders, Malte M; Guske, Katrin K; Schmitz, Boris B; Tanislav, Christian C; Ständer, Sonja S; Metze, Dieter D; Katona, Istvan I; Weis, Joachim J; Brand, Stefan-Martin SM; Duning, Thomas T; Brand, Eva E
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Human Mutation
Wu, Xiaoyang X; Katz, Evan E; Della Valle, Maria Cecilia MC; Mascioli, Kirsten K; Flanagan, John J JJ; Castelli, Jeffrey P JP; Schiffmann, Raphael R; Boudes, Pol P; Lockhart, David J DJ; Valenzano, Kenneth J KJ; Benjamin, Elfrida R ER
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.