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https://hdl.handle.net/2440/7303
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Type: | Journal article |
Title: | A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant |
Author: | Bhattacharyya, R. Gliddon, B. Beccari, T. Hopwood, J. Stanley, P. |
Citation: | Glycobiology, 2001; 11(1):99-103 |
Publisher: | Oxford Univ Press Inc |
Issue Date: | 2001 |
ISSN: | 0959-6658 1460-2423 |
Abstract: | Sanfilippo syndrome type III A (Mucopolysaccharidosis (MPS) III A) is a rare, autosomal recessive, lysosomal storage disease, characterized by the accumulation of heparan sulfate and the loss of function of lysosomal heparan N-sulfatase activity. The disease leads to devastating mental and physical consequences and a mouse model that can be used to explore gene therapy and enzyme or cell replacement therapies is needed. We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. J., Walkley, S. U., and Stanley, P. [1999] A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). Glycobiology 9, 1389--1396). We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase. |
Keywords: | CHO Cells Lysosomes Animals Mice, Inbred C57BL Mice Mucopolysaccharidosis III Disease Models, Animal Hydrolases DNA, Complementary DNA Primers Amino Acid Sequence Base Sequence Sequence Homology, Amino Acid Mutation, Missense Molecular Sequence Data Cricetinae |
DOI: | 10.1093/glycob/11.1.99 |
Published version: | http://dx.doi.org/10.1093/glycob/11.1.99 |
Appears in Collections: | Aurora harvest Paediatrics publications |
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