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https://hdl.handle.net/2440/7301
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dc.contributor.author | Bhaumik, M. | - |
dc.contributor.author | Muller, V. | - |
dc.contributor.author | Rozaklis, T. | - |
dc.contributor.author | Johnson, L. | - |
dc.contributor.author | Dobrenis, K. | - |
dc.contributor.author | Bhattacharyya, R. | - |
dc.contributor.author | Wurzelmann, S. | - |
dc.contributor.author | Finamore, P. | - |
dc.contributor.author | Hopwood, J. | - |
dc.contributor.author | Walkley, S. | - |
dc.contributor.author | Stanley, P. | - |
dc.date.issued | 1999 | - |
dc.identifier.citation | Glycobiology, 1999; 9(12):1389-1396 | - |
dc.identifier.issn | 0959-6658 | - |
dc.identifier.issn | 1460-2423 | - |
dc.identifier.uri | http://hdl.handle.net/2440/7301 | - |
dc.description | Copyright © 1999 Oxford University Press | - |
dc.description.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. | - |
dc.description.statementofresponsibility | 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 | - |
dc.language.iso | en | - |
dc.publisher | Oxford University Press | - |
dc.source.uri | http://glycob.oxfordjournals.org/cgi/content/abstract/9/12/1389 | - |
dc.subject | MPS III A | - |
dc.subject | mouse | - |
dc.subject | pathogenesis | - |
dc.subject | Sanfilippo syndrome | - |
dc.title | A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome) | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1093/glycob/9.12.1389 | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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