| http://purl.uniprot.org/citations/16223891 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16223891 | http://www.w3.org/2000/01/rdf-schema#comment | "Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the retina, caused by mutations in exon 5 of the gene for tissue inhibitor of metalloproteinases-3 (TIMP-3). The mechanism by which these mutations give rise to the disease phenotype is unknown. In an attempt to identify common properties of these molecules that might underlie the disease phenotype, a range of SFD mutants were expressed from human retinal pigment epithelial (RPE) cells. This showed that resistance to turnover, resulting from intermolecular disulfide bond formation, was a common property of all the SFD mutants examined, providing a possible explanation for the increased deposition of the protein observed in eyes from SFD patients. In contrast, SFD mutants varied in their ability to inhibit cell-surface activation of matrix metalloproteinase-2 (MMP-2), a potent mediator of angiogenesis, ranging from being fully active to totally inactive. These data show that increased deposition of active TIMP-3, rather than dysregulation of metalloproteinase inhibition, is likely to be the primary, initiating event in SFD."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddi385"xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/author | "Smith B.M."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/author | "McKie N."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/author | "Brown N.J."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/author | "Barker M.D."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/author | "Langton K.P."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/pages | "3579-3586"xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/title | "Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells."xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://purl.uniprot.org/core/volume | "14"xsd:string |
| http://purl.uniprot.org/citations/16223891 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16223891 |
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