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https://hdl.handle.net/2440/7301
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Type: | Journal article |
Title: | A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome) |
Author: | Bhaumik, M. Muller, V. Rozaklis, T. Johnson, L. Dobrenis, K. Bhattacharyya, R. Wurzelmann, S. Finamore, P. Hopwood, J. Walkley, S. Stanley, P. |
Citation: | Glycobiology, 1999; 9(12):1389-1396 |
Publisher: | Oxford University Press |
Issue Date: | 1999 |
ISSN: | 0959-6658 1460-2423 |
Statement of Responsibility: | Mantu Bhaumik, Vivienne J.Muller, Tina Rozaklis, Linda Johnson, Kostantin Dobrenis, Riddhi Bhattacharyya, Sarah Wurzelmann, Peter Finamore, John J.Hopwood, Steven U.Walkleya, and Pamela Stanley |
Abstract: | Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). Here we describe a spontaneous mouse mutant that replicates many of the features found in MPS III A in children. Brain sections revealed neurons with distended lysosomes filled with membranous and floccular materials with some having a classical zebra body morphology. Storage materials were also present in lysosomes of cells of many other tissues, and these often stained positively with periodic-acid Schiff reagent. Affected mice usually died at 7-10 months of age exhibiting a distended bladder and hepatosplenomegaly. Heparan sulfate isolated from urine and brain had nonreducing end glucosamine- N -sulfate residues that were digested with recombinant human sulfamidase. Enzyme assays of liver and brain extracts revealed a dramatic reduction in sulfamidase activity. Other lysosomal hydrolases that degrade heparan sulfate or other glycans and glycosaminoglycans were either normal, or were somewhat increased in specific activity. The MPS III A mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy. |
Keywords: | MPS III A mouse pathogenesis Sanfilippo syndrome |
Description: | Copyright © 1999 Oxford University Press |
DOI: | 10.1093/glycob/9.12.1389 |
Published version: | http://glycob.oxfordjournals.org/cgi/content/abstract/9/12/1389 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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