| http://purl.uniprot.org/citations/7670466 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7670466 | http://www.w3.org/2000/01/rdf-schema#comment | "Types A and B Niemann-Pick disease (NPD) result from the deficient activity of acid sphingomyelinase (ASM). An animal model of NPD has been created by gene targeting. In affected animals, the disease followed a severe, neurodegenerative course and death occurred by eight months of age. Analysis of these animals showed their tissues had no detectable ASM activity, the blood cholesterol levels and sphingomyelin in the liver and brain were elevated, and atrophy of the cerebellum and marked deficiency of Purkinje cells was evident. Microscopic analysis revealed 'NPD cells' in reticuloendothelial organs and characteristic NPD lesions in the brain. Thus, the ASM deficient mice should be of great value for studying the pathogenesis and treatment of NPD, and for investigations into the role of ASM in signal transduction and apoptosis."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0795-288"xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Sandhoff K."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Desnick R.J."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Bisgaier C.L."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Ferlinz K."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Schuchman E.H."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Stewart C.L."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Horinouchi K."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Erlich S."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/author | "Perl D.P."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/name | "Nat Genet"xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/pages | "288-293"xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/title | "Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease."xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/7670466 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7670466 |
| http://purl.uniprot.org/citations/7670466 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/7670466 |
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