| http://purl.uniprot.org/citations/11675386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11675386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11675386 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Citation |
| http://purl.uniprot.org/citations/11675386 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the gene encoding 11-cis-retinol dehydrogenase (RDH5; EC ) are associated with fundus albipunctatus, an autosomal recessive eye disease characterized by stationary night blindness and accumulation of white spots in the retina. In addition, some mutated alleles are associated with development of cone dystrophy, especially in elderly patients. The numbers of identified RDH5 mutations linked to fundus albipunctatus have increased considerably during recent years. In this work, we have characterized the biochemical and cell biological properties of 11 mutants of RDH5 to understand the molecular pathology of the disease. All RDH5 mutants showed decreased protein stability and subcellular mislocalization and, in most cases, loss of enzymatic activity in vitro and in vivo. Surprisingly, mutant A294P displays significant enzymatic activity. Cross-linking studies and molecular modeling showed that RDH5 is dimeric, and co-expression analyses of wild-type and mutated alleles showed that the mutated enzymes, in a trans-dominant-negative manner, influenced the in vivo enzymatic properties of functional variants of the enzyme, particularly the A294P mutant. Thus, under certain conditions, nonfunctional alleles act in a dominant-negative way on functional but relatively unstable mutated alleles. However, in heterozygous individuals carrying one wild-type allele, the disease is recessive, probably due to the stability of the wild-type enzyme."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m107337200"xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m107337200"xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Persson B."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Persson B."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Eriksson U."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Eriksson U."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Tryggvason K."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Tryggvason K."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Liden M."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Liden M."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Romert A."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/author | "Romert A."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/pages | "49251-49257"xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/pages | "49251-49257"xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/title | "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/title | "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus."xsd:string |
| http://purl.uniprot.org/citations/11675386 | http://purl.uniprot.org/core/volume | "276"xsd:string |