Matches in SemOpenAlex for { <https://semopenalex.org/work/W2012607911> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2012607911 endingPage "S22" @default.
- W2012607911 startingPage "S21" @default.
- W2012607911 abstract "The cellular iron exporter ferroportin 1 is expressed in both the duodenum and in cells of the mononuclear phagocyte system. Expression of ferroportin 1 protein on the cell surface is regulated by the interaction of ferroportin 1 with hepcidin. Hepcidin treatment of cells results in internalization and lysosomal degradation of cell surface ferroportin 1. Recently, ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified. HFE4 differs from classical hemochromatosis in that there is a greater amount of macrophage iron sequestration. The data presented here demonstrate that HFE4 mutations are heterogeneous in their effects on protein function. Some mutations result in loss of function with partial protein sequestration in the ER. Others are indistinguishable from native ferroportin 1 and have a similar ability to deplete transfected cells of iron as evidenced by activation of the iron-response proteins and cellular ferritin depletion. Significantly, all mutants appear to be unresponsive to hepcidin and do not demonstrate the expected internalization on exposure to hepcidin. The clinical phenotypes observed in patients may be secondary to cell-type-specific defects in hepcidin-mediated inhibition of ferroportin 1 expression." @default.
- W2012607911 created "2016-06-24" @default.
- W2012607911 creator A5005400418 @default.
- W2012607911 creator A5009457840 @default.
- W2012607911 creator A5009930475 @default.
- W2012607911 creator A5026879640 @default.
- W2012607911 creator A5027877770 @default.
- W2012607911 creator A5046308926 @default.
- W2012607911 creator A5056708332 @default.
- W2012607911 creator A5077808115 @default.
- W2012607911 date "2009-02-01" @default.
- W2012607911 modified "2023-10-05" @default.
- W2012607911 title "44. Outcomes of children transplanted for Krabbe disease" @default.
- W2012607911 doi "https://doi.org/10.1016/j.ymgme.2008.11.045" @default.
- W2012607911 hasPublicationYear "2009" @default.
- W2012607911 type Work @default.
- W2012607911 sameAs 2012607911 @default.
- W2012607911 citedByCount "1" @default.
- W2012607911 countsByYear W20126079112012 @default.
- W2012607911 crossrefType "journal-article" @default.
- W2012607911 hasAuthorship W2012607911A5005400418 @default.
- W2012607911 hasAuthorship W2012607911A5009457840 @default.
- W2012607911 hasAuthorship W2012607911A5009930475 @default.
- W2012607911 hasAuthorship W2012607911A5026879640 @default.
- W2012607911 hasAuthorship W2012607911A5027877770 @default.
- W2012607911 hasAuthorship W2012607911A5046308926 @default.
- W2012607911 hasAuthorship W2012607911A5056708332 @default.
- W2012607911 hasAuthorship W2012607911A5077808115 @default.
- W2012607911 hasConcept C139770010 @default.
- W2012607911 hasConcept C1491633281 @default.
- W2012607911 hasConcept C185592680 @default.
- W2012607911 hasConcept C202751555 @default.
- W2012607911 hasConcept C203014093 @default.
- W2012607911 hasConcept C2776590208 @default.
- W2012607911 hasConcept C2776710925 @default.
- W2012607911 hasConcept C2776768029 @default.
- W2012607911 hasConcept C2776914184 @default.
- W2012607911 hasConcept C2778319317 @default.
- W2012607911 hasConcept C2779244956 @default.
- W2012607911 hasConcept C54355233 @default.
- W2012607911 hasConcept C55493867 @default.
- W2012607911 hasConcept C86803240 @default.
- W2012607911 hasConcept C95444343 @default.
- W2012607911 hasConceptScore W2012607911C139770010 @default.
- W2012607911 hasConceptScore W2012607911C1491633281 @default.
- W2012607911 hasConceptScore W2012607911C185592680 @default.
- W2012607911 hasConceptScore W2012607911C202751555 @default.
- W2012607911 hasConceptScore W2012607911C203014093 @default.
- W2012607911 hasConceptScore W2012607911C2776590208 @default.
- W2012607911 hasConceptScore W2012607911C2776710925 @default.
- W2012607911 hasConceptScore W2012607911C2776768029 @default.
- W2012607911 hasConceptScore W2012607911C2776914184 @default.
- W2012607911 hasConceptScore W2012607911C2778319317 @default.
- W2012607911 hasConceptScore W2012607911C2779244956 @default.
- W2012607911 hasConceptScore W2012607911C54355233 @default.
- W2012607911 hasConceptScore W2012607911C55493867 @default.
- W2012607911 hasConceptScore W2012607911C86803240 @default.
- W2012607911 hasConceptScore W2012607911C95444343 @default.
- W2012607911 hasIssue "2" @default.
- W2012607911 hasLocation W20126079111 @default.
- W2012607911 hasOpenAccess W2012607911 @default.
- W2012607911 hasPrimaryLocation W20126079111 @default.
- W2012607911 hasRelatedWork W1971455039 @default.
- W2012607911 hasRelatedWork W1984123570 @default.
- W2012607911 hasRelatedWork W1997633964 @default.
- W2012607911 hasRelatedWork W2012607911 @default.
- W2012607911 hasRelatedWork W2089230063 @default.
- W2012607911 hasRelatedWork W2095988872 @default.
- W2012607911 hasRelatedWork W2136557193 @default.
- W2012607911 hasRelatedWork W2734249968 @default.
- W2012607911 hasRelatedWork W2996302374 @default.
- W2012607911 hasRelatedWork W3028115072 @default.
- W2012607911 hasVolume "96" @default.
- W2012607911 isParatext "false" @default.
- W2012607911 isRetracted "false" @default.
- W2012607911 magId "2012607911" @default.
- W2012607911 workType "article" @default.