Source:http://linkedlifedata.com/resource/pubmed/id/10561464
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
12
|
| pubmed:dateCreated |
2000-2-1
|
| pubmed:abstractText |
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.
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| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
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| pubmed:issn |
0959-6658
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
9
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
1389-96
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| pubmed:dateRevised |
2007-11-14
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| pubmed:meshHeading |
pubmed-meshheading:10561464-Animals,
pubmed-meshheading:10561464-Brain,
pubmed-meshheading:10561464-Disease Models, Animal,
pubmed-meshheading:10561464-Female,
pubmed-meshheading:10561464-Glycosaminoglycans,
pubmed-meshheading:10561464-Heparitin Sulfate,
pubmed-meshheading:10561464-Humans,
pubmed-meshheading:10561464-Hydrolases,
pubmed-meshheading:10561464-Liver,
pubmed-meshheading:10561464-Lysosomes,
pubmed-meshheading:10561464-Male,
pubmed-meshheading:10561464-Mice,
pubmed-meshheading:10561464-Mice, Inbred C57BL,
pubmed-meshheading:10561464-Mice, Mutant Strains,
pubmed-meshheading:10561464-Microscopy, Electron,
pubmed-meshheading:10561464-Mucopolysaccharidosis III,
pubmed-meshheading:10561464-Myocardium,
pubmed-meshheading:10561464-Spleen,
pubmed-meshheading:10561464-Urinary Bladder
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
|
| pubmed:affiliation |
Department of Cell Biology, Albert Einstein College of Medicine, New York, NY 10461, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|