title: Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
abstract: Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the best of our knowledge, there is no database including the structures of mutant GLAs. Herein, we constructed a database of clinical phenotypes, genotypes and structures of mutant GLAs. This database can be accessed as 'fabry-database.org', and is user friendly, being equipped with powerful computational tools. This database will help researchers and clinicians who study Fabry disease.
authors.affiliation: Graduate School of Agricultural and Life Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Saito
authors.forename: Kazuki
authors.initials: K
authors.lastname: Ohno
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D030541:Databases, Genetic; D000795:Fabry Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020407:Internet; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D014584:User-Computer Interface; D000519:alpha-Galactosidase / Q000737:chemistry* / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase