FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043408047> ?p ?o ?g. }

• W2043408047 endingPage "21163" @default.
• W2043408047 startingPage "21158" @default.
• W2043408047 abstract "Guanylate cyclases, GC1 and GC2, are localized in the light-sensitive outer segment compartment of photoreceptor cells, where they play a crucial role in phototransduction by catalyzing the synthesis of cGMP, the second messenger of phototransduction, and regulating intracellular Ca(2+) levels in combination with the cGMP-gated channel. Mutations in GC1 are known to cause Leber congenital amaurosis type 1 (LCA1), a childhood disease associated with severe vision loss. Although the enzymatic and regulatory properties of guanylate cyclases have been studied extensively, the molecular determinants responsible for their trafficking in photoreceptors remain unknown. Here we show that RD3, a protein of unknown function encoded by a gene associated with photoreceptor degeneration in humans with Leber congenital amaurosis type 12 (LCA12), the rd3 mouse, and rcd2 collie, colocalizes and interacts with GC1 and GC2 in rod and cone photoreceptor cells of normal mice. GC1 and GC2 are undetectable in photoreceptors of the rd3 mouse deficient in RD3 by immunofluorescence microscopy. Cell expression studies show that RD3 mediates the export of GC1 from the endoplasmic reticulum to endosomal vesicles, and that the C terminus of GC1 is required for RD3 binding. Our results indicate that photoreceptor degeneration in the rd3 mouse, rcd2 dog, and LCA12 patients is caused by impaired RD3-mediated guanylate cyclase expression and trafficking. The resulting deficiency in cGMP synthesis and the constitutive closure of cGMP-gated channels might cause a reduction in intracellular Ca(2+) to a level below that required for long-term photoreceptor cell survival." @default.
• W2043408047 created "2016-06-24" @default.
• W2043408047 creator A5043239965 @default.
• W2043408047 creator A5057946716 @default.
• W2043408047 creator A5086356122 @default.
• W2043408047 date "2010-11-15" @default.
• W2043408047 modified "2023-09-24" @default.
• W2043408047 title "RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells" @default.
• W2043408047 cites W1488709092 @default.
• W2043408047 cites W1501842971 @default.
• W2043408047 cites W1544329852 @default.
• W2043408047 cites W1567745743 @default.
• W2043408047 cites W1842798329 @default.
• W2043408047 cites W1914786390 @default.
• W2043408047 cites W1973796123 @default.
• W2043408047 cites W1978195265 @default.
• W2043408047 cites W1989352995 @default.
• W2043408047 cites W1989790836 @default.
• W2043408047 cites W1991803711 @default.
• W2043408047 cites W1994120696 @default.
• W2043408047 cites W1995140705 @default.
• W2043408047 cites W2013544810 @default.
• W2043408047 cites W2026820540 @default.
• W2043408047 cites W2029862966 @default.
• W2043408047 cites W2037854344 @default.
• W2043408047 cites W2042540266 @default.
• W2043408047 cites W2048965038 @default.
• W2043408047 cites W2053204895 @default.
• W2043408047 cites W2072495277 @default.
• W2043408047 cites W2082242442 @default.
• W2043408047 cites W2093710097 @default.
• W2043408047 cites W2119864783 @default.
• W2043408047 cites W2122261574 @default.
• W2043408047 cites W2134247450 @default.
• W2043408047 cites W2143938161 @default.
• W2043408047 cites W2151697358 @default.
• W2043408047 cites W2152579394 @default.
• W2043408047 cites W2166374045 @default.
• W2043408047 doi "https://doi.org/10.1073/pnas.1010460107" @default.
• W2043408047 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3000275" @default.
• W2043408047 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21078983" @default.
• W2043408047 hasPublicationYear "2010" @default.
• W2043408047 type Work @default.
• W2043408047 sameAs 2043408047 @default.
• W2043408047 citedByCount "86" @default.
• W2043408047 countsByYear W20434080472012 @default.
• W2043408047 countsByYear W20434080472013 @default.
• W2043408047 countsByYear W20434080472014 @default.
• W2043408047 countsByYear W20434080472015 @default.
• W2043408047 countsByYear W20434080472016 @default.
• W2043408047 countsByYear W20434080472017 @default.
• W2043408047 countsByYear W20434080472018 @default.
• W2043408047 countsByYear W20434080472019 @default.
• W2043408047 countsByYear W20434080472020 @default.
• W2043408047 countsByYear W20434080472021 @default.
• W2043408047 countsByYear W20434080472022 @default.
• W2043408047 countsByYear W20434080472023 @default.
• W2043408047 crossrefType "journal-article" @default.
• W2043408047 hasAuthorship W2043408047A5043239965 @default.
• W2043408047 hasAuthorship W2043408047A5057946716 @default.
• W2043408047 hasAuthorship W2043408047A5086356122 @default.
• W2043408047 hasBestOaLocation W20434080471 @default.
• W2043408047 hasConcept C13121076 @default.
• W2043408047 hasConcept C131667965 @default.
• W2043408047 hasConcept C158617107 @default.
• W2043408047 hasConcept C169760540 @default.
• W2043408047 hasConcept C170493617 @default.
• W2043408047 hasConcept C173803235 @default.
• W2043408047 hasConcept C2777093970 @default.
• W2043408047 hasConcept C31519591 @default.
• W2043408047 hasConcept C54355233 @default.
• W2043408047 hasConcept C79879829 @default.
• W2043408047 hasConcept C86803240 @default.
• W2043408047 hasConcept C95444343 @default.
• W2043408047 hasConceptScore W2043408047C13121076 @default.
• W2043408047 hasConceptScore W2043408047C131667965 @default.
• W2043408047 hasConceptScore W2043408047C158617107 @default.
• W2043408047 hasConceptScore W2043408047C169760540 @default.
• W2043408047 hasConceptScore W2043408047C170493617 @default.
• W2043408047 hasConceptScore W2043408047C173803235 @default.
• W2043408047 hasConceptScore W2043408047C2777093970 @default.
• W2043408047 hasConceptScore W2043408047C31519591 @default.
• W2043408047 hasConceptScore W2043408047C54355233 @default.
• W2043408047 hasConceptScore W2043408047C79879829 @default.
• W2043408047 hasConceptScore W2043408047C86803240 @default.
• W2043408047 hasConceptScore W2043408047C95444343 @default.
• W2043408047 hasIssue "49" @default.
• W2043408047 hasLocation W20434080471 @default.
• W2043408047 hasLocation W20434080472 @default.
• W2043408047 hasLocation W20434080473 @default.
• W2043408047 hasLocation W20434080474 @default.
• W2043408047 hasOpenAccess W2043408047 @default.
• W2043408047 hasPrimaryLocation W20434080471 @default.
• W2043408047 hasRelatedWork W1550806901 @default.
• W2043408047 hasRelatedWork W1990689067 @default.
• W2043408047 hasRelatedWork W2169776140 @default.
• W2043408047 hasRelatedWork W2365391808 @default.
• W2043408047 hasRelatedWork W2792030698 @default.

• next