Literature DB >> 21412250

Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.

Seiji Saito1, Kazuki Ohno, Hitoshi Sakuraba.   

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.

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Year:  2011        PMID: 21412250     DOI: 10.1038/jhg.2011.31

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.172


  19 in total

1.  Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers.

Authors:  Michel Boutin; Christiane Auray-Blais
Journal:  J Am Soc Mass Spectrom       Date:  2015-01-13       Impact factor: 3.109

2.  Development of a model system for neuronal dysfunction in Fabry disease.

Authors:  Christine R Kaneski; Roscoe O Brady; John A Hanover; Ulrike H Schueler
Journal:  Mol Genet Metab       Date:  2016-07-22       Impact factor: 4.797

Review 3.  [Fabry disease : diagnosis and treatment].

Authors:  N Üçeyler; C Sommer
Journal:  Schmerz       Date:  2012-09       Impact factor: 1.107

4.  Newborn screening for lysosomal storage diseases: an ethical and policy analysis.

Authors:  Lainie Friedman Ross
Journal:  J Inherit Metab Dis       Date:  2011-12-22       Impact factor: 4.982

Review 5.  Ion channels and pain in Fabry disease.

Authors:  Carina Weissmann; Adriana A Albanese; Natalia E Contreras; María N Gobetto; Libia C Salinas Castellanos; Osvaldo D Uchitel
Journal:  Mol Pain       Date:  2021 Jan-Dec       Impact factor: 3.395

6.  Signatures of Altered Gene Expression in Dorsal Root Ganglia of a Fabry Disease Mouse Model.

Authors:  Kai K Kummer; Theodora Kalpachidou; Michaela Kress; Michiel Langeslag
Journal:  Front Mol Neurosci       Date:  2018-01-25       Impact factor: 5.639

7.  E-Learning for Rare Diseases: An Example Using Fabry Disease.

Authors:  Chiara Cimmaruta; Ludovica Liguori; Maria Monticelli; Giuseppina Andreotti; Valentina Citro
Journal:  Int J Mol Sci       Date:  2017-09-24       Impact factor: 5.923

8.  Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.

Authors:  Seiji Saito; Kazuki Ohno; Torayuki Okuyama; Hitoshi Sakuraba
Journal:  PLoS One       Date:  2016-10-03       Impact factor: 3.240

9.  Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Authors:  Alberto Ortiz; Ademola Abiose; Daniel G Bichet; Gustavo Cabrera; Joel Charrow; Dominique P Germain; Robert J Hopkin; Ana Jovanovic; Aleš Linhart; Sonia S Maruti; Michael Mauer; João P Oliveira; Manesh R Patel; Juan Politei; Stephen Waldek; Christoph Wanner; Han-Wook Yoo; David G Warnock
Journal:  J Med Genet       Date:  2016-03-18       Impact factor: 6.318

10.  Altered Gene Expression in Prefrontal Cortex of a Fabry Disease Mouse Model.

Authors:  Kai K Kummer; Theodora Kalpachidou; Miodrag Mitrić; Michiel Langeslag; Michaela Kress
Journal:  Front Mol Neurosci       Date:  2018-06-25       Impact factor: 5.639

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