Matches in SemOpenAlex for { <https://semopenalex.org/work/W2078736354> ?p ?o ?g. }
- W2078736354 endingPage "5040" @default.
- W2078736354 startingPage "5032" @default.
- W2078736354 abstract "Abstract Patients with platelet α or dense δ-granule defects have bleeding problems. Although several proteins are known to be required for δ-granule development, less is known about α-granule biogenesis. Our previous work showed that the BEACH protein NBEAL2 and the Sec1/Munc18 protein VPS33B are required for α-granule biogenesis. Using a yeast two-hybrid screen, mass spectrometry, coimmunoprecipitation, and bioinformatics studies, we identified VPS16B as a VPS33B-binding protein. Immunoblotting confirmed VPS16B expression in various human tissues and cells including megakaryocytes and platelets, and also in megakaryocytic Dami cells. Characterization of platelets from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome containing mutations in C14orf133 encoding VPS16B revealed pale-appearing platelets in blood films and electron microscopy revealed a complete absence of α-granules, whereas δ-granules were observed. Soluble and membrane-bound α-granule proteins were reduced or undetectable, suggesting that both releasable and membrane-bound α-granule constituents were absent. Immunofluorescence microscopy of Dami cells stably expressing GFP-VPS16B revealed that similar to VPS33B, GFP-VPS16B colocalized with markers of the trans-Golgi network, late endosomes and α-granules. We conclude that VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet α-granule biogenesis." @default.
- W2078736354 created "2016-06-24" @default.
- W2078736354 creator A5004205333 @default.
- W2078736354 creator A5004300117 @default.
- W2078736354 creator A5009965172 @default.
- W2078736354 creator A5014759949 @default.
- W2078736354 creator A5016396243 @default.
- W2078736354 creator A5034320745 @default.
- W2078736354 creator A5059995503 @default.
- W2078736354 creator A5064980480 @default.
- W2078736354 creator A5065048444 @default.
- W2078736354 creator A5072861069 @default.
- W2078736354 creator A5076132080 @default.
- W2078736354 creator A5077696367 @default.
- W2078736354 creator A5085182984 @default.
- W2078736354 date "2012-12-13" @default.
- W2078736354 modified "2023-10-12" @default.
- W2078736354 title "The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis" @default.
- W2078736354 cites W107472485 @default.
- W2078736354 cites W130104401 @default.
- W2078736354 cites W1498243413 @default.
- W2078736354 cites W1581255805 @default.
- W2078736354 cites W1974607230 @default.
- W2078736354 cites W1977060018 @default.
- W2078736354 cites W1994622828 @default.
- W2078736354 cites W1995012413 @default.
- W2078736354 cites W1995517904 @default.
- W2078736354 cites W1995601334 @default.
- W2078736354 cites W1996591375 @default.
- W2078736354 cites W2000747270 @default.
- W2078736354 cites W2016501141 @default.
- W2078736354 cites W2025973136 @default.
- W2078736354 cites W2035211879 @default.
- W2078736354 cites W2053978776 @default.
- W2078736354 cites W2055429591 @default.
- W2078736354 cites W2055599313 @default.
- W2078736354 cites W2060305564 @default.
- W2078736354 cites W2060443143 @default.
- W2078736354 cites W2069197051 @default.
- W2078736354 cites W2069786094 @default.
- W2078736354 cites W2072816942 @default.
- W2078736354 cites W2074736003 @default.
- W2078736354 cites W2077109373 @default.
- W2078736354 cites W2080702765 @default.
- W2078736354 cites W2084224210 @default.
- W2078736354 cites W2087235653 @default.
- W2078736354 cites W2094205174 @default.
- W2078736354 cites W2095423071 @default.
- W2078736354 cites W2096657097 @default.
- W2078736354 cites W2101561087 @default.
- W2078736354 cites W2101596944 @default.
- W2078736354 cites W2103618752 @default.
- W2078736354 cites W2113458043 @default.
- W2078736354 cites W2118597788 @default.
- W2078736354 cites W2119361574 @default.
- W2078736354 cites W2134879438 @default.
- W2078736354 cites W2137685927 @default.
- W2078736354 cites W2150650800 @default.
- W2078736354 cites W2151890795 @default.
- W2078736354 cites W2153457817 @default.
- W2078736354 cites W2153964142 @default.
- W2078736354 cites W2155347323 @default.
- W2078736354 cites W2164046385 @default.
- W2078736354 cites W2167045574 @default.
- W2078736354 cites W2168295368 @default.
- W2078736354 cites W2169259508 @default.
- W2078736354 doi "https://doi.org/10.1182/blood-2012-05-431205" @default.
- W2078736354 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3538988" @default.
- W2078736354 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23002115" @default.
- W2078736354 hasPublicationYear "2012" @default.
- W2078736354 type Work @default.
- W2078736354 sameAs 2078736354 @default.
- W2078736354 citedByCount "75" @default.
- W2078736354 countsByYear W20787363542012 @default.
- W2078736354 countsByYear W20787363542013 @default.
- W2078736354 countsByYear W20787363542014 @default.
- W2078736354 countsByYear W20787363542015 @default.
- W2078736354 countsByYear W20787363542016 @default.
- W2078736354 countsByYear W20787363542017 @default.
- W2078736354 countsByYear W20787363542018 @default.
- W2078736354 countsByYear W20787363542019 @default.
- W2078736354 countsByYear W20787363542020 @default.
- W2078736354 countsByYear W20787363542021 @default.
- W2078736354 countsByYear W20787363542022 @default.
- W2078736354 countsByYear W20787363542023 @default.
- W2078736354 crossrefType "journal-article" @default.
- W2078736354 hasAuthorship W2078736354A5004205333 @default.
- W2078736354 hasAuthorship W2078736354A5004300117 @default.
- W2078736354 hasAuthorship W2078736354A5009965172 @default.
- W2078736354 hasAuthorship W2078736354A5014759949 @default.
- W2078736354 hasAuthorship W2078736354A5016396243 @default.
- W2078736354 hasAuthorship W2078736354A5034320745 @default.
- W2078736354 hasAuthorship W2078736354A5059995503 @default.
- W2078736354 hasAuthorship W2078736354A5064980480 @default.
- W2078736354 hasAuthorship W2078736354A5065048444 @default.
- W2078736354 hasAuthorship W2078736354A5072861069 @default.
- W2078736354 hasAuthorship W2078736354A5076132080 @default.
- W2078736354 hasAuthorship W2078736354A5077696367 @default.