RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/32526701http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32526701http://www.w3.org/2000/01/rdf-schema#comment"Dehydrodolichyl diphosphate synthase (DHDDS) catalyzes the committed step in dolichol synthesis. Recessive mutations in DHDDS cause retinitis pigmentosa (RP59), resulting in blindness. We hypothesized that rod photoreceptor-specific ablation of Dhdds would cause retinal degeneration due to diminished dolichol-dependent protein N-glycosylation. Dhddsflx/flx mice were crossed with rod-specific Cre recombinase-expressing (Rho-iCre75) mice to generate rod-specific Dhdds knockout mice (Dhddsflx/flx iCre+). In vivo morphological and electrophysiological evaluation of Dhddsflx/flx iCre+ retinas revealed mild retinal dysfunction at postnatal (PN) 4 weeks, compared with age-matched controls; however, rapid photoreceptor degeneration ensued, resulting in almost complete loss of rods and cones by PN 6 weeks. Retina dolichol levels were markedly decreased by PN 4 weeks in Dhddsflx/flx iCre+ mice, relative to controls; despite this, N-glycosylation of retinal proteins, including opsin (the dominant rod-specific glycoprotein), persisted in Dhddsflx/flx iCre+ mice. These findings challenge the conventional mechanistic view of RP59 as a congenital disorder of glycosylation."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.org/dc/terms/identifier"doi:10.1016/j.isci.2020.101198"xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Wu F."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Mu X."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Swiezewska E."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Surmacz L."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Pittler S.J."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Fliesler S.J."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Butler M.C."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Danikiewicz W."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Spolnik G."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Stacks D.A."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Onysk A."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Ramachandra Rao S."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/author"Skelton L.A."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/date"2020"xsd:gYear
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/name"iScience"xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/pages"101198"xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/title"Retinal Degeneration Caused by Rod-Specific Dhdds Ablation Occurs without Concomitant Inhibition of Protein N-Glycosylation."xsd:string
http://purl.uniprot.org/citations/32526701http://purl.uniprot.org/core/volume"23"xsd:string
http://purl.uniprot.org/citations/32526701http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/32526701
http://purl.uniprot.org/citations/32526701http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/32526701
http://purl.uniprot.org/uniprot/#_A3KGK9-mappedCitation-32526701http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32526701
http://purl.uniprot.org/uniprot/#_A3KGL0-mappedCitation-32526701http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32526701