• 1
    Huizing M, Anikster Y, Gahl WA. Hermansky–Pudlak syndrome and related disorders of organelle formation. Traffic 2000;11: 823835.
  • 2
    Spritz RA, Chiang P-W, Oiso N, Alkhateeb A. Human and mouse disorders of pigmentation. Curr Opin Genet Dev 2003;13: 284289.
  • 3
    Raposo G, Marks MS. The dark side of lysosome-related organelles: specialization of the endocytic pathway for melanosome biogenesis. Traffic 2002;3: 237248.
  • 4
    King SM, Reed GL. Development of platelet secretory granules. Semin Cell Dev Biol 2002;13: 293302.
  • 5
    Nakatani Y, Nakamura N, Sano J, Inayama Y, Kawano N, Yamanaka S, Miyagi Y, Nagashima Y, Ohbayashi C, Mizushima M, Manabe T, Kuroda M, Yokoi T, Matsubara O. Interstitial pneumonia in Hermansky–Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows Arch 2000;437: 304313.
  • 6
    Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies EG, Griffiths GM. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 2003;4: 11111120.
  • 7
    Benson KF, Li F-Q, Person RE, Albani D, Duan Z, Wechsler J, Meade-White K, Williams K, Acland GM, Niemeyer G, Lothrop CD, Horwitz M. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 2003;35: 9096.
  • 8
    Boehm M, Bonifacino JS. Genetic analyses of adaptin function from yeast to mammals. Gene 2002;286: 175186.
  • 9
    Suzuki T, Oiso N, Gautam R, Novak EK, Panthier J-J, Suprabha PG, Vida T, Swank RT, Spritz RA. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A 2003;100: 11461150.
  • 10
    Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky–Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor. Mol Cell 1999;3: 1121.
  • 11
    Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, et al. Hermansky–Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003;35: 8489.
  • 12
    Chiang P-W, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky–Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 2003;278: 2033220337.
  • 13
    Nazarian R, Falcón-Pérez JM, Dell'Angelica EC. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky–Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A 2003;100: 87708775.
  • 14
    Martina JA, Moriyama K, Bonifacino JS. BLOC-3, a protein complex containing the Hermansky–Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 2003;278: 2937629384.
  • 15
    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, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky–Pudlak syndrome types 5 and 6. Nat Genet 2003;33: 145153.
  • 16
    Siegel LM, Monty KJ. Determination of molecular weights and frictional ratios of proteins in impure systems by use of gel filtration and density gradient centrifugation. Application to crude preparations of sulfite and hydroxylamine reductase. Biochim Biophys Acta 1966;112: 346362.
  • 17
    Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT. The Hermansky–Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem 2004: in press.
  • 18
    Oberhauser AF, Fernandez JM. A fusion phenotype in mast cells of the ruby-eye mouse. Proc Natl Acad Sci U S A 1996;93: 1434914354.
  • 19
    Swank RT, Novak EK, McGarry MP, Rusiniak ME, Feng L. Mouse models of Hermansky–Pudlak syndrome: a review. Pigment Cell Res 1998;11: 6080.
  • 20
    Novak EK, Sweet HO, Prochazka M, Parentis M, Soble R, Reddington M, Cairo A, Swank RT. Cocoa: a new mouse model for platelet storage pool deficiency. Br J Haematol 1988;69: 371378.
  • 21
    Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Hermansky–Pudlak syndrome type 3 in Ashkenazi jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet 2001;69: 10221032.
  • 22
    Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem 2002;277: 2819128199.
  • 23
    Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW, Bonifacino JS. AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J 1997;15: 917928.
  • 24
    Donnellan M, McKenzie DR, French PW. Effects of exposure to electromagnetic radiation at 835 MHz on growth, morphology and secretory characteristics of a mast cell analogue, RBL-2H3. Cell Biol Int 1997;21: 427439.