메뉴 건너뛰기




Volumn 124, Issue 2, 2005, Pages 420-427

Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking

Author keywords

Albinism; Lysosomes; Pigmentation; Translocation; Tyrosinase

Indexed keywords

GENE PRODUCT; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 1; MONOPHENOL MONOOXYGENASE; RAB27A PROTEIN; TRANSFERRIN; TYROSINASE RELATED PROTEIN 1; TYROSINASE RELATED PROTEIN 2;

EID: 12944284535     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2004.23585.x     Document Type: Article
Times cited : (48)

References (63)
  • 1
    • 0037666799 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics
    • Anderson PD, Huizing M, Claassen DA, White J, Gahl WA: Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics. Hum Genet 113:10-17, 2003
    • (2003) Hum Genet , vol.113 , pp. 10-17
    • Anderson, P.D.1    Huizing, M.2    Claassen, D.A.3    White, J.4    Gahl, W.A.5
  • 2
    • 0034928726 scopus 로고    scopus 로고
    • Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in genetic isolate of central Puerto Rico
    • Anikster Y, Huizing M, White J, Bale S, Gahl WA, Toro J: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in genetic isolate of central Puerto Rico. Nat Genet 28:376-380, 2001
    • (2001) Nat Genet , vol.28 , pp. 376-380
    • Anikster, Y.1    Huizing, M.2    White, J.3    Bale, S.4    Gahl, W.A.5    Toro, J.6
  • 3
    • 0344565844 scopus 로고
    • Vascular pseudohemophilia associated with ceroid pigmentophagia in albinos
    • Bednar B, Hermansky F, Lojda Z: Vascular pseudohemophilia associated with ceroid pigmentophagia in albinos. Am J Pathol 45:283-294, 1964
    • (1964) Am J Pathol , vol.45 , pp. 283-294
    • Bednar, B.1    Hermansky, F.2    Lojda, Z.3
  • 4
    • 0035200704 scopus 로고    scopus 로고
    • Pmel17 initiates premelanosome morphogenesis within multivesicular bodies
    • Berson JF, Harper DC, Tenza D, Raposo G, Marks MS: Pmel17 initiates premelanosome morphogenesis within multivesicular bodies. Mol Biol Cell 12:3451-3464, 2001
    • (2001) Mol Biol Cell , vol.12 , pp. 3451-3464
    • Berson, J.F.1    Harper, D.C.2    Tenza, D.3    Raposo, G.4    Marks, M.S.5
  • 5
    • 0037986392 scopus 로고    scopus 로고
    • Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis
    • Berson JF, Theos AC, Harper DC, Tenza D, Raposo G, Marks MS: Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. J Cell Biol 161:521-533, 2003
    • (2003) J Cell Biol , vol.161 , pp. 521-533
    • Berson, J.F.1    Theos, A.C.2    Harper, D.C.3    Tenza, D.4    Raposo, G.5    Marks, M.S.6
  • 7
    • 0031716330 scopus 로고    scopus 로고
    • Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking
    • Boissy RE, Zhao Y, Gahl WA: Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: Support for the role of the HPS gene product in intracellular trafficking. Lab Invest 78:1037-1048, 1998
    • (1998) Lab Invest , vol.78 , pp. 1037-1048
    • Boissy, R.E.1    Zhao, Y.2    Gahl, W.A.3
  • 8
    • 0842324801 scopus 로고    scopus 로고
    • The mechanisms of vesicle budding and fusion
    • Bonifacino JS, Glick BS: The mechanisms of vesicle budding and fusion. Cell 116:153-166, 2004
    • (2004) Cell , vol.116 , pp. 153-166
    • Bonifacino, J.S.1    Glick, B.S.2
  • 9
    • 0033957481 scopus 로고    scopus 로고
    • Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1
    • Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA: Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 117:129-136, 2000
    • (2000) Chest , vol.117 , pp. 129-136
    • Brantly, M.1    Avila, N.A.2    Shotelersuk, V.3    Lucero, C.4    Huizing, M.5    Gahl, W.A.6
  • 10
    • 0038713390 scopus 로고    scopus 로고
    • 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
    • Chiang PW, 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 278:20332-20337, 2003
    • (2003) J Biol Chem , vol.278 , pp. 20332-20337
    • Chiang, P.W.1    Oiso, N.2    Gautam, R.3    Suzuki, T.4    Swank, R.T.5    Spritz, R.A.6
  • 11
    • 0038142358 scopus 로고    scopus 로고
    • Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)
    • Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL: Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Blood 101:4402-4407, 2003
    • (2003) Blood , vol.101 , pp. 4402-4407
    • Ciciotte, S.L.1    Gwynn, B.2    Moriyama, K.3    Huizing, M.4    Gahl, W.A.5    Bonifacino, J.S.6    Peters, L.L.7
  • 14
    • 0031566379 scopus 로고    scopus 로고
    • β3A-adaptin, a subunit of the adaptor-like complex AP-3
    • Dell'Angelica EC, Ooi CE, Bonifacino JS: β3A-adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem 272:15078-15084, 1997
    • (1997) J Biol Chem , vol.272 , pp. 15078-15084
    • Dell'Angelica, E.C.1    Ooi, C.E.2    Bonifacino, J.S.3
  • 15
    • 0033007616 scopus 로고    scopus 로고
    • Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the β3A subunit of the AP-3 adaptor
    • 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 3:11-21, 1999
    • (1999) Mol Cell , vol.3 , pp. 11-21
    • Dell'Angelica, E.C.1    Shotelersuk, V.2    Aguilar, R.C.3    Gahl, W.A.4    Bonifacino, J.S.5
  • 16
    • 1842588760 scopus 로고    scopus 로고
    • Characterization of BLOC-2, a Complex Containing the Hermansky-Pudlak Syndrome Proteins HPS3, HPS5 and HPS6
    • Di Pietro SM, Falcon-Perez JM, Dell'Angelica EC: Characterization of BLOC-2, a Complex Containing the Hermansky-Pudlak Syndrome Proteins HPS3, HPS5 and HPS6. Traffic 5:276-283, 2004
    • (2004) Traffic , vol.5 , pp. 276-283
    • Di Pietro, S.M.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 17
    • 0025340880 scopus 로고
    • Studies on the mechanisms of autophagy: Maturation of the autophagic vacuole
    • Dünn WA Jr: Studies on the mechanisms of autophagy: Maturation of the autophagic vacuole. J Cell Biol 110:1935-1945, 1990
    • (1990) J Cell Biol , vol.110 , pp. 1935-1945
    • Dünn Jr., W.A.1
  • 18
    • 0037008731 scopus 로고    scopus 로고
    • BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    • Falcon-Perez 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 277:28191-28199, 2002
    • (2002) J Biol Chem , vol.277 , pp. 28191-28199
    • Falcon-Perez, J.M.1    Starcevic, M.2    Gautam, R.3    Dell'Angelica, E.C.4
  • 19
    • 0037815124 scopus 로고    scopus 로고
    • Tyrosinase maturation and oligomerization in the endoplasmic reticulum require a melanocyte-specific factor
    • Francis E, Wang N, Parag H, Halaban R, Hebert DN: Tyrosinase maturation and oligomerization in the endoplasmic reticulum require a melanocyte-specific factor. J Biol Chem 278:25607-25617, 2003
    • (2003) J Biol Chem , vol.278 , pp. 25607-25617
    • Francis, E.1    Wang, N.2    Parag, H.3    Halaban, R.4    Hebert, D.N.5
  • 20
    • 19244382144 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brantly M, Kaiser-Kupfer MI, et al: Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med 338:1258-1264, 1998
    • (1998) N Engl J Med , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brantly, M.2    Kaiser-Kupfer, M.I.3
  • 21
    • 1842581837 scopus 로고    scopus 로고
    • 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, et al: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem 279:12935-12942, 2004
    • (2004) J Biol Chem , vol.279 , pp. 12935-12942
    • Gautam, R.1    Chintala, S.2    Li, W.3
  • 22
    • 0021717594 scopus 로고
    • Selective elimination of fibroblasts from cultures of normal human melanocytes
    • Halaban R, Alfano FD: Selective elimination of fibroblasts from cultures of normal human melanocytes. In Vitro Cell Dev Biol 20:447-450, 1984
    • (1984) In Vitro Cell Dev Biol , vol.20 , pp. 447-450
    • Halaban, R.1    Alfano, F.D.2
  • 23
    • 0028407912 scopus 로고
    • Pathogenesis of pulmonary fibrosis: Platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome
    • Harmon KR, Witkop CJ, White JG, et al: Pathogenesis of pulmonary fibrosis: Platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med 123:617-627, 1994
    • (1994) J Lab Clin Med , vol.123 , pp. 617-627
    • Harmon, K.R.1    Witkop, C.J.2    White, J.G.3
  • 24
    • 12944292081 scopus 로고    scopus 로고
    • Hermansky Pudlak syndrome type 3 protein interacts with clathrin and functions in trafficking of lysosome-related organelles
    • in press
    • Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy R, Gahl WA, Huizing M: Hermansky Pudlak syndrome type 3 protein interacts with clathrin and functions in trafficking of lysosome-related organelles. Mol Biol Cell in press, 2004
    • (2004) Mol Biol Cell
    • Helip-Wooley, A.1    Westbroek, W.2    Dorward, H.3    Mommaas, M.4    Boissy, R.5    Gahl, W.A.6    Huizing, M.7
  • 25
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • Hermansky F, Pudlak P: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies. Blood 14:162-169, 1959
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 26
    • 0039109678 scopus 로고    scopus 로고
    • A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3
    • Honing S, Sandoval IV, von Figura K: A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. EMBO J 17:1304-1314, 1998
    • (1998) EMBO J , vol.17 , pp. 1304-1314
    • Honing, S.1    Sandoval, I.V.2    Von Figura, K.3
  • 27
    • 0034764945 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage pool deficiency
    • Huizing M, Anikster Y, Fitzpatrick DL, et al: 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 69:1022-1032, 2001a
    • (2001) Am J Hum Genet , vol.69 , pp. 1022-1032
    • Huizing, M.1    Anikster, Y.2    Fitzpatrick, D.L.3
  • 28
    • 18744385809 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
    • Huizing M, Boissy RE, Gahl WA: Hermansky-Pudlak syndrome: Vesicle formation from yeast to man. Pigment Cell Res 15:405-419, 2002
    • (2002) Pigment Cell Res , vol.15 , pp. 405-419
    • Huizing, M.1    Boissy, R.E.2    Gahl, W.A.3
  • 30
    • 1342310841 scopus 로고    scopus 로고
    • The roles of Rab27 and its effectors in the regulated secretory pathways
    • Izumi T, Gomi H, Kasai K, Mizutani S, Torii S: The roles of Rab27 and its effectors in the regulated secretory pathways. Cell Struct Funct 28:465-474, 2003
    • (2003) Cell Struct Funct , vol.28 , pp. 465-474
    • Izumi, T.1    Gomi, H.2    Kasai, K.3    Mizutani, S.4    Torii, S.5
  • 32
    • 0001166951 scopus 로고
    • A formaldehyde-glutaraldehyde fixative of high osmolality for use in electron microscopy
    • 27137
    • Karnovsky MJ: A formaldehyde-glutaraldehyde fixative of high osmolality for use in electron microscopy. J Cell Biol 27137 (abstr), 1965
    • (1965) J Cell Biol , Issue.ABSTR
    • Karnovsky, M.J.1
  • 33
    • 0000264791 scopus 로고
    • Use of ferrocyanide-reduced osmium tetroxide in electron microscopy
    • 51146
    • Karnovsky MJ: Use of ferrocyanide-reduced osmium tetroxide in electron microscopy. J Cell Biol 51146 (abstr), 1971
    • (1971) J Cell Biol , Issue.ABSTR
    • Karnovsky, M.J.1
  • 34
    • 0034307476 scopus 로고    scopus 로고
    • Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy
    • Kegel KB, Kim M, Sapp E, McIntyre C, Castano JG, Aronin N, DiFiglia M: Huntingtin expression stimulates endosomal-lysosomal activity, endosome tubulation, and autophagy. J Neurosci 20:7268-7278, 2000
    • (2000) J Neurosci , vol.20 , pp. 7268-7278
    • Kegel, K.B.1    Kim, M.2    Sapp, E.3    McIntyre, C.4    Castano, J.G.5    Aronin, N.6    DiFiglia, M.7
  • 36
    • 0034537290 scopus 로고    scopus 로고
    • Autophagy as a regulated pathway of cellular degradation
    • Klionsky DJ, Emr SD: Autophagy as a regulated pathway of cellular degradation. Science 290:1717-1721, 2000
    • (2000) Science , vol.290 , pp. 1717-1721
    • Klionsky, D.J.1    Emr, S.D.2
  • 37
    • 0041854263 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)
    • Li W, Zhang Q, Oiso N, 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 35:84-89, 2003
    • (2003) Nat Genet , vol.35 , pp. 84-89
    • Li, W.1    Zhang, Q.2    Oiso, N.3
  • 38
    • 0035490904 scopus 로고    scopus 로고
    • The melanosome: Membrane dynamics in black and white
    • Marks MS, Seabra MC: The melanosome: Membrane dynamics in black and white. Nat Rev Mol Cell Biol 2:738-748, 2001
    • (2001) Nat Rev Mol Cell Biol , vol.2 , pp. 738-748
    • Marks, M.S.1    Seabra, M.C.2
  • 39
    • 0043208690 scopus 로고    scopus 로고
    • BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    • Martina JA, Moriyama K, Bonifacino JS: BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J Biol Chem 278:29376-29384, 2003
    • (2003) J Biol Chem , vol.278 , pp. 29376-29384
    • Martina, J.A.1    Moriyama, K.2    Bonifacino, J.S.3
  • 40
    • 0014447371 scopus 로고
    • Golgi-melanosome relationship in human melanoma in vitro
    • Maul GG: Golgi-melanosome relationship in human melanoma in vitro. J Ultrastruct Res 26:163-176, 1969
    • (1969) J Ultrastruct Res , vol.26 , pp. 163-176
    • Maul, G.G.1
  • 41
    • 0014983426 scopus 로고
    • On the possible function of coated vesicles in melanogenesis of the regenerating fowl feather
    • Maul GG, Brumbaugh JA: On the possible function of coated vesicles in melanogenesis of the regenerating fowl feather. J Cell Biol 48:41-48, 1971
    • (1971) J Cell Biol , vol.48 , pp. 41-48
    • Maul, G.G.1    Brumbaugh, J.A.2
  • 42
    • 0025169472 scopus 로고
    • Successful culture of adult human melanocytes from normal and vitiligo donors
    • Medrano EE, Nordlund JJ: Successful culture of adult human melanocytes from normal and vitiligo donors. J Invest Dermatol 95:441-445, 1990
    • (1990) J Invest Dermatol , vol.95 , pp. 441-445
    • Medrano, E.E.1    Nordlund, J.J.2
  • 44
    • 0014288538 scopus 로고
    • Ultrastructural and cytochemical observations on B16 and Harding-Passey melanomas. The origin of premelanosomes and compound melanosomes
    • Novikoff A, Albala A, Biempica L: Ultrastructural and cytochemical observations on B16 and Harding-Passey melanomas. The origin of premelanosomes and compound melanosomes. J Histochem Cytochem 16:299-319, 1968
    • (1968) J Histochem Cytochem , vol.16 , pp. 299-319
    • Novikoff, A.1    Albala, A.2    Biempica, L.3
  • 45
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles
    • Oh J, Bailin T, Fukai K, et al: Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet 14:300-306, 1996
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3
  • 46
    • 0034639713 scopus 로고    scopus 로고
    • The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes
    • Oh J, Liu Z-X, Feng GH, Raposo G, Spritz RA: The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet 9:375-385, 2000
    • (2000) Hum Mol Genet , vol.9 , pp. 375-385
    • Oh, J.1    Liu, Z.-X.2    Feng, G.H.3    Raposo, G.4    Spritz, R.A.5
  • 47
    • 0002146569 scopus 로고    scopus 로고
    • The biogenesis of melanosomes
    • Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P (eds). New York: Oxford University Press
    • Orlow SJ: The biogenesis of melanosomes. In: Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P (eds). The Pigmentary System, Physiology and Pathophysiology. New York: Oxford University Press, 1998; p 97-106
    • (1998) The Pigmentary System, Physiology and Pathophysiology , pp. 97-106
    • Orlow, S.J.1
  • 48
    • 0027472666 scopus 로고
    • Subcellular distribution of tyrosinase and tyrosinase-related protein-1: Implications for melanosomal biogenesis
    • Orlow SJ, Boissy RE, Moran DJ, Pifko-Hirst S: Subcellular distribution of tyrosinase and tyrosinase-related protein-1: Implications for melanosomal biogenesis. J Invest Dermatol 100:55-64, 1993
    • (1993) J Invest Dermatol , vol.100 , pp. 55-64
    • Orlow, S.J.1    Boissy, R.E.2    Moran, D.J.3    Pifko-Hirst, S.4
  • 49
    • 0036219181 scopus 로고    scopus 로고
    • The dark side of lysosome-related organelles: Specialization of the endocytic pathway for melanosome biogenesis
    • Raposo R, Marks MS: The dark side of lysosome-related organelles: Specialization of the endocytic pathway for melanosome biogenesis. Traffic 3:237-248, 2002
    • (2002) Traffic , vol.3 , pp. 237-248
    • Raposo, R.1    Marks, M.S.2
  • 52
    • 0026584008 scopus 로고
    • Autophagy and other vacuolar protein degradation mechanisms
    • Seglen PO, Bohley P: Autophagy and other vacuolar protein degradation mechanisms. Experientia 48:158-172, 1992
    • (1992) Experientia , vol.48 , pp. 158-172
    • Seglen, P.O.1    Bohley, P.2
  • 53
    • 0037067673 scopus 로고    scopus 로고
    • A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport
    • Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC: A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J Biol Chem 277:25423-25430, 2002
    • (2002) J Biol Chem , vol.277 , pp. 25423-25430
    • Strom, M.1    Hume, A.N.2    Tarafder, A.K.3    Barkagianni, E.4    Seabra, M.C.5
  • 54
    • 0034760556 scopus 로고    scopus 로고
    • The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene
    • Suzuki T, Li W, Zhang Q, et al: The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics 78:30-37, 2001
    • (2001) Genomics , vol.78 , pp. 30-37
    • Suzuki, T.1    Li, W.2    Zhang, Q.3
  • 55
    • 18544384692 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene
    • Suzuki T, Li W, Zhang Q, et al: Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 30:321-324, 2002
    • (2002) Nat Genet , vol.30 , pp. 321-324
    • Suzuki, T.1    Li, W.2    Zhang, Q.3
  • 57
    • 0026526735 scopus 로고
    • A second tyrosinase related protein, TRP-2, is a melanogenic enzyme termed dopachrome tautomerase
    • Tsukamoto K, Jackson IJ, Urabe K, Montague P, Hearing VJ: A second tyrosinase related protein, TRP-2, is a melanogenic enzyme termed dopachrome tautomerase. EMBO J 11:519-526, 1992
    • (1992) EMBO J , vol.11 , pp. 519-526
    • Tsukamoto, K.1    Jackson, I.J.2    Urabe, K.3    Montague, P.4    Hearing, V.J.5
  • 58
    • 12944314030 scopus 로고
    • The role of multivesicular bodies in melanosome formation
    • Turner WA Jr, Taylor JD, Tchen TT.: The role of multivesicular bodies in melanosome formation. Pigment Cell 3:33-45, 1976
    • (1976) Pigment Cell , vol.3 , pp. 33-45
    • Turner Jr., W.A.1    Taylor, J.D.2    Tchen, T.T.3
  • 59
    • 0035937150 scopus 로고    scopus 로고
    • Translation rate of human tyrosinase determines its N-linked glycosylation level
    • Ujvari A, Aron R, Eisenhaure T, et al: Translation rate of human tyrosinase determines its N-linked glycosylation level. J Biol Chem 276:5924-5931, 2001
    • (2001) J Biol Chem , vol.276 , pp. 5924-5931
    • Ujvari, A.1    Aron, R.2    Eisenhaure, T.3
  • 60
    • 10744223486 scopus 로고    scopus 로고
    • Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity
    • Watabe H, Valencia JC, Yasumoto K, et al: Regulation of tyrosinase processing and trafficking by organellar pH and by proteasome activity. J Biol Chem 279:7971-7981, 2004
    • (2004) J Biol Chem , vol.279 , pp. 7971-7981
    • Watabe, H.1    Valencia, J.C.2    Yasumoto, K.3
  • 62
    • 0023485139 scopus 로고
    • Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome
    • Witkop CJJ, Krumwiede M, Sedano H, White JG: Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 26:305-311, 1987
    • (1987) Am J Hematol , vol.26 , pp. 305-311
    • Witkop, C.J.J.1    Krumwiede, M.2    Sedano, H.3    White, J.G.4
  • 63
    • 0037312933 scopus 로고    scopus 로고
    • 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, et al: Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 33:145-153, 2003
    • (2003) Nat Genet , vol.33 , pp. 145-153
    • Zhang, Q.1    Zhao, B.2    Li, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.