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rdf:type |
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lifeskim:mentions |
umls-concept:C0017205,
umls-concept:C0017262,
umls-concept:C0017768,
umls-concept:C0026336,
umls-concept:C0030664,
umls-concept:C0178784,
umls-concept:C0185117,
umls-concept:C0442045,
umls-concept:C1522424,
umls-concept:C1698986,
umls-concept:C2911684
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pubmed:issue |
6
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|
pubmed:dateCreated |
2006-5-29
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|
pubmed:abstractText |
Gaucher disease is the most common of the lysosomal storage disorders. The primary manifestation is the accumulation of glucosylceramide (GL-1) in the macrophages of liver and spleen (Gaucher cells), due to a deficiency in the lysosomal hydrolase glucocerebrosidase (GC). A Gaucher mouse model (D409V/null) exhibiting reduced GC activity and accumulation of GL-1 was used to evaluate adeno-associated viral (AAV)-mediated gene therapy.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1099-498X
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2006 John Wiley & Sons, Ltd.
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
719-29
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pubmed:meshHeading |
pubmed-meshheading:16528760-Animals,
pubmed-meshheading:16528760-Bronchoalveolar Lavage Fluid,
pubmed-meshheading:16528760-Dependovirus,
pubmed-meshheading:16528760-Disease Models, Animal,
pubmed-meshheading:16528760-Dose-Response Relationship, Drug,
pubmed-meshheading:16528760-Gaucher Disease,
pubmed-meshheading:16528760-Gene Expression Regulation, Enzymologic,
pubmed-meshheading:16528760-Gene Therapy,
pubmed-meshheading:16528760-Glucosylceramidase,
pubmed-meshheading:16528760-Humans,
pubmed-meshheading:16528760-Immune Tolerance,
pubmed-meshheading:16528760-Liver,
pubmed-meshheading:16528760-Lung,
pubmed-meshheading:16528760-Macrophages,
pubmed-meshheading:16528760-Mice,
pubmed-meshheading:16528760-Mice, Inbred C57BL,
pubmed-meshheading:16528760-Spleen,
pubmed-meshheading:16528760-Treatment Outcome,
pubmed-meshheading:16528760-Viscera
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pubmed:year |
2006
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pubmed:articleTitle |
AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease.
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pubmed:affiliation |
Genzyme Corporation, 31 New York Avenue, Framingham, MA 01701-9322, USA.
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pubmed:publicationType |
Journal Article
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