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.
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Acknowledgements
This work was supported by the Japan Society for the Promotion of Science (IDs: 21390314 and 23659527, HS); the Program for Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (ID: 09-15, HS); the Program for Research on Intractable Disease of Health and Labor Science Research Grants (HS); the JAPS Asia/Africa Scientific Platform Program (HS); and the High-Tech Research Center Project of the Ministry of Education, Culture, Sports, Science and Technology of Japan (S0801043, HS).
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Saito, S., Ohno, K., Sekijima, M. et al. Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI. J Hum Genet 57, 280–282 (2012). https://doi.org/10.1038/jhg.2012.6
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DOI: https://doi.org/10.1038/jhg.2012.6
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