Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI

Journal of Human Genetics
Seiji SaitoHitoshi Sakuraba

Abstract

Mucopolysaccharidosis type VI (MPS VI) is a genetic disorder caused by a deficiency of arylsulfatase B (ARSB). In our previous study, we investigated the structural changes in ARSB caused by amino acid substitutions associated with MPS VI, and revealed that such structural changes in ARSB were correlated with the clinical phenotypes. To the best of our knowledge, there is no database containing the structures of mutant ARSBs. Here, we built a database of clinical phenotypes, genotypes and structures of mutant ARSBs (http://mps6-database.org). This database can be accessed via the Internet, and is user friendly being equipped with powerful computational tools. This database will be useful for a better understanding of MPS VI.

References

Nov 1, 1996·Human Genetics·D N Cooper, M Krawczak
Feb 15, 1997·Structure·C S BondJ M Guss
Apr 14, 2010·Orphanet Journal of Rare Diseases·Vassili ValayannopoulosSean Turbeville

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Citations

Apr 6, 2013·Orphanet Journal of Rare Diseases·Marion M BrandsArnold J Reuser
Dec 7, 2013·Metabolic Brain Disease·Joanna Jakóbkiewicz-BaneckaGrzegorz Węgrzyn
Mar 5, 2016·Molecular Genetics and Metabolism Reports·Juby MathewSudha Srinivasan
Jul 3, 2016·BMC Veterinary Research·Leslie A LyonsMaria Longeri
Nov 1, 2016·Genetic Testing and Molecular Biomarkers·Chupong IttiwutVorasuk Shotelersuk
Sep 18, 2018·Expert Review of Molecular Diagnostics·Ana Carolina Brusius-FacchinRoberto Giugliani
Sep 24, 2014·Circulation·Sherif F Nagueh
Sep 16, 2017·Journal of Community Genetics·Nouriya Abbas Al-SannaaIssam Hassan Bouholaigah

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