Matches in SemOpenAlex for { <https://semopenalex.org/work/W4251010351> ?p ?o ?g. }
- W4251010351 endingPage "257" @default.
- W4251010351 startingPage "247" @default.
- W4251010351 abstract "Griscelli syndrome (GS) patients and the corresponding mouse model ashen exhibit defects mainly in two types of lysosome-related organelles, melanosomes in melanocytes and lytic granules in CTLs. This disease is caused by loss-of-function mutations in RAB27A, which encodes 1 of the 60 known Rab GTPases, critical regulators of vesicular transport. Here we present evidence that Rab27a function can be compensated by a closely related protein, Rab27b. Rab27b is expressed in platelets and other tissues but not in melanocytes or CTLs. Morphological and functional tests in platelets derived from ashen mice are all within normal limits. Both Rab27a and Rab27b are found associated with the limiting membrane of platelet-dense granules and to a lesser degree with α-granules. Ubiquitous transgenic expression of Rab27a or Rab27b rescues ashen coat color, and melanocytes derived from transgenic mice exhibit widespread peripheral distribution of melanosomes instead of the perinuclear clumping observed in ashen melanocytes. Finally, transient expression in ashen melanocytes of Rab27a or Rab27b, but not other Rab’s, restores peripheral distribution of melanosomes. Our data suggest that Rab27b is functionally redundant with Rab27a and that the pathogenesis of GS is determined by the relative expression of Rab27a and Rab27b in specialized cell types." @default.
- W4251010351 created "2022-05-12" @default.
- W4251010351 creator A5000412862 @default.
- W4251010351 creator A5004447319 @default.
- W4251010351 creator A5032376828 @default.
- W4251010351 creator A5032614754 @default.
- W4251010351 creator A5043485685 @default.
- W4251010351 creator A5059670850 @default.
- W4251010351 creator A5059900467 @default.
- W4251010351 creator A5065695073 @default.
- W4251010351 creator A5078100376 @default.
- W4251010351 creator A5090216858 @default.
- W4251010351 date "2002-07-15" @default.
- W4251010351 modified "2023-10-18" @default.
- W4251010351 title "Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome" @default.
- W4251010351 cites W1489286522 @default.
- W4251010351 cites W1493827763 @default.
- W4251010351 cites W1595083713 @default.
- W4251010351 cites W1683450014 @default.
- W4251010351 cites W1717049970 @default.
- W4251010351 cites W178269644 @default.
- W4251010351 cites W1826524642 @default.
- W4251010351 cites W1922265191 @default.
- W4251010351 cites W1923913903 @default.
- W4251010351 cites W1973200579 @default.
- W4251010351 cites W1975810610 @default.
- W4251010351 cites W1998153400 @default.
- W4251010351 cites W2007171704 @default.
- W4251010351 cites W2009758559 @default.
- W4251010351 cites W2014064711 @default.
- W4251010351 cites W2017222087 @default.
- W4251010351 cites W2020121457 @default.
- W4251010351 cites W2030300486 @default.
- W4251010351 cites W2040649045 @default.
- W4251010351 cites W2048162805 @default.
- W4251010351 cites W2049657352 @default.
- W4251010351 cites W2050213416 @default.
- W4251010351 cites W2057777449 @default.
- W4251010351 cites W2065257533 @default.
- W4251010351 cites W2067618437 @default.
- W4251010351 cites W2074209621 @default.
- W4251010351 cites W2074574014 @default.
- W4251010351 cites W2075582171 @default.
- W4251010351 cites W2081500438 @default.
- W4251010351 cites W2089157318 @default.
- W4251010351 cites W2107518823 @default.
- W4251010351 cites W2109672926 @default.
- W4251010351 cites W2110278844 @default.
- W4251010351 cites W2113167811 @default.
- W4251010351 cites W2128444868 @default.
- W4251010351 cites W2137804377 @default.
- W4251010351 cites W2142285934 @default.
- W4251010351 cites W2143806946 @default.
- W4251010351 cites W2146940742 @default.
- W4251010351 cites W2151797498 @default.
- W4251010351 cites W2154563382 @default.
- W4251010351 cites W2269921753 @default.
- W4251010351 cites W2410466081 @default.
- W4251010351 cites W2809870516 @default.
- W4251010351 cites W317324549 @default.
- W4251010351 doi "https://doi.org/10.1172/jci0215058" @default.
- W4251010351 hasPublicationYear "2002" @default.
- W4251010351 type Work @default.
- W4251010351 citedByCount "139" @default.
- W4251010351 countsByYear W42510103512012 @default.
- W4251010351 countsByYear W42510103512013 @default.
- W4251010351 countsByYear W42510103512014 @default.
- W4251010351 countsByYear W42510103512015 @default.
- W4251010351 countsByYear W42510103512016 @default.
- W4251010351 countsByYear W42510103512017 @default.
- W4251010351 countsByYear W42510103512018 @default.
- W4251010351 countsByYear W42510103512019 @default.
- W4251010351 countsByYear W42510103512020 @default.
- W4251010351 countsByYear W42510103512021 @default.
- W4251010351 countsByYear W42510103512022 @default.
- W4251010351 countsByYear W42510103512023 @default.
- W4251010351 crossrefType "journal-article" @default.
- W4251010351 hasAuthorship W4251010351A5000412862 @default.
- W4251010351 hasAuthorship W4251010351A5004447319 @default.
- W4251010351 hasAuthorship W4251010351A5032376828 @default.
- W4251010351 hasAuthorship W4251010351A5032614754 @default.
- W4251010351 hasAuthorship W4251010351A5043485685 @default.
- W4251010351 hasAuthorship W4251010351A5059670850 @default.
- W4251010351 hasAuthorship W4251010351A5059900467 @default.
- W4251010351 hasAuthorship W4251010351A5065695073 @default.
- W4251010351 hasAuthorship W4251010351A5078100376 @default.
- W4251010351 hasAuthorship W4251010351A5090216858 @default.
- W4251010351 hasBestOaLocation W42510103511 @default.
- W4251010351 hasConcept C107538193 @default.
- W4251010351 hasConcept C156728348 @default.
- W4251010351 hasConcept C207332259 @default.
- W4251010351 hasConcept C2777658100 @default.
- W4251010351 hasConcept C2779769559 @default.
- W4251010351 hasConcept C502942594 @default.
- W4251010351 hasConcept C54355233 @default.
- W4251010351 hasConcept C86803240 @default.
- W4251010351 hasConcept C94435474 @default.
- W4251010351 hasConcept C95444343 @default.