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Journal Abstract Search

260 related items for PubMed ID: 17156100

  • 1. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5).
    Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC.
    Traffic; 2007 Feb; 8(2):154-68. PubMed ID: 17156100
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  • 3. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.
    Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT.
    Bioessays; 2004 Jun; 26(6):616-28. PubMed ID: 15170859
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  • 5. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
    Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT.
    Nat Genet; 2003 Feb; 33(2):145-53. PubMed ID: 12548288
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  • 6. The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene.
    Syrzycka M, McEachern LA, Kinneard J, Prabhu K, Fitzpatrick K, Schulze S, Rawls JM, Lloyd VK, Sinclair DA, Honda BM.
    Genome; 2007 Jun; 50(6):548-56. PubMed ID: 17632576
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  • 7. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
    Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, Moriyama K, Huizing M, Helip-Wooley A, Gahl WA, Webb LS, Lambert AJ, Peters LL.
    Blood; 2004 Nov 15; 104(10):3181-9. PubMed ID: 15265785
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  • 8. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
    Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG, Gahl WA.
    Traffic; 2004 Sep 15; 5(9):711-22. PubMed ID: 15296495
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  • 10. The building BLOC(k)s of lysosomes and related organelles.
    Dell'Angelica EC.
    Curr Opin Cell Biol; 2004 Aug 15; 16(4):458-64. PubMed ID: 15261680
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  • 15. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
    Starcevic M, Dell'Angelica EC.
    J Biol Chem; 2004 Jul 02; 279(27):28393-401. PubMed ID: 15102850
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  • 16. The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome.
    Hoffman-Sommer M, Grynberg M, Kucharczyk R, Rytka J.
    Traffic; 2005 Jul 02; 6(7):534-8. PubMed ID: 15941405
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  • 17. AP-3-dependent trafficking and disease: the first decade.
    Dell'Angelica EC.
    Curr Opin Cell Biol; 2009 Aug 02; 21(4):552-9. PubMed ID: 19497727
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  • 18. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
    Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA.
    Platelets; 2007 Mar 02; 18(2):150-7. PubMed ID: 17365864
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  • 19. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
    Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT.
    J Biol Chem; 2004 Mar 26; 279(13):12935-42. PubMed ID: 14718540
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  • 20. BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
    Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA.
    Curr Biol; 2012 Nov 20; 22(22):2135-9. PubMed ID: 23084991
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