| http://purl.uniprot.org/citations/17954912 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17954912 | http://www.w3.org/2000/01/rdf-schema#comment | "Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase). GCase deficiency leads to characteristic visceral pathology and, in some patients, lethal neurological manifestations. Here, we report the generation of mouse models with the severe neuronopathic form of GD. To circumvent the lethal skin phenotype observed in several of the previous GCase-deficient animals, we genetically engineered a mouse model with strong reduction in GCase activity in all tissues except the skin. These mice exhibit rapid motor dysfunction associated with severe neurodegeneration and apoptotic cell death within the brain, reminiscent of neuronopathic GD. In addition, we have created a second mouse model, in which GCase deficiency is restricted to neural and glial cell progenitors and progeny. These mice develop similar pathology as the first mouse model, but with a delayed onset and slower disease progression, which indicates that GCase deficiency within microglial cells that are of hematopoietic origin is not the primary determinant of the CNS pathology. These findings also demonstrate that normal microglial cells cannot rescue this neurodegenerative disease. These mouse models have significant implications for the development of therapy for patients with neuronopathic GD."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.0708086104"xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Richter J."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Mansson J.E."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Brady R.O."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Kirik D."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Nilsson E."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Karlsson S."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Ehinger M."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Lo Bianco C."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Ooka A."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/author | "Enquist I.B."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/pages | "17483-17488"xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/title | "Murine models of acute neuronopathic Gaucher disease."xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://purl.uniprot.org/core/volume | "104"xsd:string |
| http://purl.uniprot.org/citations/17954912 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17954912 |
| http://purl.uniprot.org/citations/17954912 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17954912 |
| http://purl.uniprot.org/uniprot/P17439#attribution-238B9735C971C5EAE2EF307CBBD2D11C | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17954912 |
| http://purl.uniprot.org/uniprot/#_A0A0G2JDK2-mappedCitation-17954912 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17954912 |
| http://purl.uniprot.org/uniprot/#_P17439-mappedCitation-17954912 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17954912 |
| http://purl.uniprot.org/uniprot/A0A0G2JDK2 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/17954912 |
| http://purl.uniprot.org/uniprot/P17439 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/17954912 |