| http://purl.uniprot.org/citations/16410831 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16410831 | http://www.w3.org/2000/01/rdf-schema#comment | "Choroideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid, caused by loss of function of the CHM/REP1 gene. REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics. To study the pathogenesis of CHM and to develop a model for assessing gene therapy, we have created a conditional mouse knockout of the Chm gene. Heterozygous-null females exhibit characteristic hallmarks of CHM: progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects. Using tamoxifen-inducible and tissue-specific Cre expression in combination with floxed Chm alleles, we show that CHM pathogenesis involves independently triggered degeneration of photoreceptors and the RPE, associated with different subsets of defective Rabs."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci26617"xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Dallman M.J."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Ramalho J.S."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Seeliger M.W."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Seabra M.C."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Tanimoto N."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Futter C.E."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Tolmachova T."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Abrink M."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Tonagel F."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Huxley C."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Anders R."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/author | "Bugeon L."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/pages | "386-394"xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/title | "Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia."xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://purl.uniprot.org/core/volume | "116"xsd:string |
| http://purl.uniprot.org/citations/16410831 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16410831 |
| http://purl.uniprot.org/citations/16410831 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16410831 |
| http://purl.uniprot.org/uniprot/#_A2AD03-mappedCitation-16410831 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16410831 |
| http://purl.uniprot.org/uniprot/#_Q3UR39-mappedCitation-16410831 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16410831 |
| http://purl.uniprot.org/uniprot/#_Q8CBI2-mappedCitation-16410831 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16410831 |