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Volumn 9, Issue , 2008, Pages 359-386

Disorders of lysosome-related organelle biogenesis: Clinical and molecular genetics

Author keywords

Chediak Higashi syndrome; Griscelli syndrome; Hermansky Pudlak syndrome; Melanosome; Platelet

Indexed keywords

ACTIN; DYNEIN ADENOSINE TRIPHOSPHATASE; HYDROLASE; KINESIN; MOLECULAR MOTOR; MYOSIN; RAB PROTEIN; SMALL INTERFERING RNA; SNARE PROTEIN; SOMATOMEDIN B RECEPTOR; TYROSINASE RELATED PROTEIN 1;

EID: 52949149668     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.9.081307.164303     Document Type: Review
Times cited : (332)

References (131)
  • 1
    • 23844449034 scopus 로고    scopus 로고
    • Targeting of Rab GTPases to cellular membranes
    • Ali B, Seabra M. 2005. Targeting of Rab GTPases to cellular membranes. Biochem. Soc. Trans. 33:652-56
    • (2005) Biochem. Soc. Trans , vol.33 , pp. 652-656
    • Ali, B.1    Seabra, M.2
  • 2
    • 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. 2003. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum. Genet. 113:10-17
    • (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
  • 3
    • 0034928726 scopus 로고    scopus 로고
    • Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    • Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, et al. 2001. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat. Genet. 28:376-80
    • (2001) Nat. Genet , vol.28 , pp. 376-380
    • Anikster, Y.1    Huizing, M.2    White, J.3    Shevchenko, Y.O.4    Fitzpatrick, D.L.5
  • 4
    • 1842421129 scopus 로고    scopus 로고
    • The melanosome as a model to study organelle motility in mammals
    • Barral DC, Seabra MC. 2004. The melanosome as a model to study organelle motility in mammals. Pigment Cell Res. 17:111-18
    • (2004) Pigment Cell Res , vol.17 , pp. 111-118
    • Barral, D.C.1    Seabra, M.C.2
  • 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. 2003. Proprotein convertase cleavage liberates a fibrillogenic fragment of a resident glycoprotein to initiate melanosome biogenesis. J. Cell Biol. 161:521-33
    • (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
  • 6
    • 33846109356 scopus 로고    scopus 로고
    • A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
    • Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, et al. 2007. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat. Med. 13:38-45
    • (2007) Nat. Med , vol.13 , pp. 38-45
    • Bohn, G.1    Allroth, A.2    Brandes, G.3    Thiel, J.4    Glocker, E.5
  • 7
    • 34948886663 scopus 로고    scopus 로고
    • Severe congenital neutropenia: New genes explain an old disease
    • Bohn G, Welte K, Klein C. 2007. Severe congenital neutropenia: new genes explain an old disease. Curr. Opin. Rheumatol. 19:644-50
    • (2007) Curr. Opin. Rheumatol , vol.19 , pp. 644-650
    • Bohn, G.1    Welte, K.2    Klein, C.3
  • 8
    • 11144239946 scopus 로고    scopus 로고
    • Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3
    • Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, et al. 2005. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am. J. Pathol. 166:231-40
    • (2005) Am. J. Pathol , vol.166 , pp. 231-240
    • Boissy, R.E.1    Richmond, B.2    Huizing, M.3    Helip-Wooley, A.4    Zhao, Y.5
  • 9
    • 0842324801 scopus 로고    scopus 로고
    • The mechanisms of vesicle budding and fusion
    • Bonifacino JS, Glick BS. 2004. The mechanisms of vesicle budding and fusion. Cell 116:153-66
    • (2004) Cell , vol.116 , pp. 153-166
    • Bonifacino, J.S.1    Glick, B.S.2
  • 11
    • 34247623568 scopus 로고    scopus 로고
    • Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle
    • Cai H, Reinisch K, Ferro-Novick S. 2007. Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle. Dev. Cell 12:671-82
    • (2007) Dev. Cell , vol.12 , pp. 671-682
    • Cai, H.1    Reinisch, K.2    Ferro-Novick, S.3
  • 12
    • 33749015997 scopus 로고    scopus 로고
    • Microtubule motors at the intersection of trafficking and transport
    • Caviston JP, Holzbaur EL. 2006. Microtubule motors at the intersection of trafficking and transport. Trends Cell Biol. 16:530-37
    • (2006) Trends Cell Biol , vol.16 , pp. 530-537
    • Caviston, J.P.1    Holzbaur, E.L.2
  • 13
    • 0016598865 scopus 로고
    • Abnormal lamellar bodies in type II pneumocytes and increased lung surface active material in the beige mouse
    • Chi E, Pruiett J, Lagunoff D. 1975. Abnormal lamellar bodies in type II pneumocytes and increased lung surface active material in the beige mouse. J. Histochem. Cytochem. 23:863-66
    • (1975) J. Histochem. Cytochem , vol.23 , pp. 863-866
    • Chi, E.1    Pruiett, J.2    Lagunoff, D.3
  • 14
    • 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. 2003. 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. 278:20332-37
    • (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
  • 15
    • 23344450918 scopus 로고    scopus 로고
    • Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells
    • Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, et al. 2005. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc. Natl. Acad. Sci. USA 102:10964-69
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 10964-10969
    • Chintala, S.1    Li, W.2    Lamoreux, M.L.3    Ito, S.4    Wakamatsu, K.5
  • 16
    • 34447133038 scopus 로고    scopus 로고
    • Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
    • Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, et al. 2007. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448:68-72
    • (2007) Nature , vol.448 , pp. 68-72
    • Chow, C.Y.1    Zhang, Y.2    Dowling, J.J.3    Jin, N.4    Adamska, M.5
  • 17
    • 0035658298 scopus 로고    scopus 로고
    • Actin filaments and myosin I alpha cooperate with microtubules for the movement of lysosomes
    • Cordonnier MN, Dauzonne D, Louvard D, Coudrier E. 2001. Actin filaments and myosin I alpha cooperate with microtubules for the movement of lysosomes. Mol. Biol. Cell 12:4013-29
    • (2001) Mol. Biol. Cell , vol.12 , pp. 4013-4029
    • Cordonnier, M.N.1    Dauzonne, D.2    Louvard, D.3    Coudrier, E.4
  • 21
    • 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. 1999. 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) 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
  • 22
    • 34547986066 scopus 로고    scopus 로고
    • Should I stay or should I go?': Myosin V function in organelle trafficking
    • Desnos C, Huet S, Darchen F. 2007. 'Should I stay or should I go?': myosin V function in organelle trafficking. Biol. Cell 99:411-23
    • (2007) Biol. Cell , vol.99 , pp. 411-423
    • Desnos, C.1    Huet, S.2    Darchen, F.3
  • 23
    • 12944252970 scopus 로고    scopus 로고
    • Rab geranylgeranyl transferase amutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis
    • Detter JC, Zhang Q, Mules EH, Novak EK, Mishra VS, et al. 2000. Rab geranylgeranyl transferase amutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis. Proc. Natl. Acad. Sci. USA 97:4144-49
    • (2000) Proc. Natl. Acad. Sci. USA , vol.97 , pp. 4144-4149
    • Detter, J.C.1    Zhang, Q.2    Mules, E.H.3    Novak, E.K.4    Mishra, V.S.5
  • 24
    • 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. 2004. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic 5:276-83
    • (2004) Traffic , vol.5 , pp. 276-283
    • Di Pietro, S.M.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 25
    • 33748334320 scopus 로고    scopus 로고
    • BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes
    • Di Pietro SM, Falcon-Perez JM, Tenza D, Setty SR, Marks MS, et al. 2006. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol. Biol. Cell 17:4027-38
    • (2006) Mol. Biol. Cell , vol.17 , pp. 4027-4038
    • Di Pietro, S.M.1    Falcon-Perez, J.M.2    Tenza, D.3    Setty, S.R.4    Marks, M.S.5
  • 26
    • 33846241710 scopus 로고    scopus 로고
    • The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5)
    • Falcon-Perez JM, Romero-Calderon R, Brooks ES, Krantz DE, Dell'Angelica EC. 2007. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Traffic 8:154-68
    • (2007) Traffic , vol.8 , pp. 154-168
    • Falcon-Perez, J.M.1    Romero-Calderon, R.2    Brooks, E.S.3    Krantz, D.E.4    Dell'Angelica, E.C.5
  • 27
    • 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. 2002. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J. Biol. Chem. 277:28191-99
    • (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
  • 29
    • 33745083115 scopus 로고    scopus 로고
    • Innate immunity defects in Hermansky-Pudlak type 2 syndrome
    • Fontana S, Parolini S, Vermi W, Booth S, Gallo F, et al. 2006. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 107:4857-64
    • (2006) Blood , vol.107 , pp. 4857-4864
    • Fontana, S.1    Parolini, S.2    Vermi, W.3    Booth, S.4    Gallo, F.5
  • 30
    • 19244382144 scopus 로고    scopus 로고
    • Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)
    • Gahl WA, Brandy M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, et al. 1998. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N. Engl. J. Med. 338:1258-64
    • (1998) N. Engl. J. Med , vol.338 , pp. 1258-1264
    • Gahl, W.A.1    Brandy, M.2    Kaiser-Kupfer, M.I.3    Iwata, F.4    Hazelwood, S.5
  • 31
    • 0036376666 scopus 로고    scopus 로고
    • Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome
    • Gahl WA, Brandy M, Troendle J, Avila NA, Padua A, et al. 2002. Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome. Mol. Genet. Metab. 76:234-42
    • (2002) Mol. Genet. Metab , vol.76 , pp. 234-242
    • Gahl, W.A.1    Brandy, M.2    Troendle, J.3    Avila, N.A.4    Padua, A.5
  • 32
    • 0842322951 scopus 로고    scopus 로고
    • Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia
    • Ganly P, Walker LC, Morris CM. 2004. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk. Lymphoma 45:1-10
    • (2004) Leuk. Lymphoma , vol.45 , pp. 1-10
    • Ganly, P.1    Walker, L.C.2    Morris, C.M.3
  • 33
    • 0032146206 scopus 로고    scopus 로고
    • Decreased synthesis of glycosphingolipids in cells lacking vimentin intermediate filaments
    • Gillard BK, Clement R, Colucci-Guyon E, Babinet C, Schwarzmann G, et al. 1998. Decreased synthesis of glycosphingolipids in cells lacking vimentin intermediate filaments. Exp. Cell Res. 242:561-72
    • (1998) Exp. Cell Res , vol.242 , pp. 561-572
    • Gillard, B.K.1    Clement, R.2    Colucci-Guyon, E.3    Babinet, C.4    Schwarzmann, G.5
  • 34
    • 12144290067 scopus 로고    scopus 로고
    • Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    • Gissen P, Johnson CA, Morgan NV, Stapelbroek JM, Forshew T, et al. 2004. Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat. Genet. 36:400-4
    • (2004) Nat. Genet , vol.36 , pp. 400-404
    • Gissen, P.1    Johnson, C.A.2    Morgan, N.V.3    Stapelbroek, J.M.4    Forshew, T.5
  • 36
    • 0035490884 scopus 로고    scopus 로고
    • The endocytic pathway: A mosaic of domains
    • Gruenberg J. 2001. The endocytic pathway: a mosaic of domains. Nat. Rev. Mol. Cell Biol. 2:721-30
    • (2001) Nat. Rev. Mol. Cell Biol , vol.2 , pp. 721-730
    • Gruenberg, J.1
  • 40
    • 0002822296 scopus 로고    scopus 로고
    • Kinesin participates in melanosomal movement along melanocyte dendrites
    • Hara M, Yaar M, Byers HR, Goukassian D, Fine RE, et al. 2000. Kinesin participates in melanosomal movement along melanocyte dendrites. J. Invest. Dermatol. 114:438-43
    • (2000) J. Invest. Dermatol , vol.114 , pp. 438-443
    • Hara, M.1    Yaar, M.2    Byers, H.R.3    Goukassian, D.4    Fine, R.E.5
  • 41
    • 0029449012 scopus 로고
    • Intracellular organelles involved in antigen processing and the binding of peptides to class II MHC molecules
    • Harding C. 1995. Intracellular organelles involved in antigen processing and the binding of peptides to class II MHC molecules. Semin. Immun. 7:355-60
    • (1995) Semin. Immun , vol.7 , pp. 355-360
    • Harding, C.1
  • 44
  • 45
    • 18744416639 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome type 1: Gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases
    • Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. 2002. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum. Mutat. 20:482
    • (2002) Hum. Mutat , vol.20 , pp. 482
    • Hermos, C.R.1    Huizing, M.2    Kaiser-Kupfer, M.I.3    Gahl, W.A.4
  • 47
    • 0642377462 scopus 로고    scopus 로고
    • Biochemical and molecular characterization of diseases linked to motor proteins
    • Hirokawa N, Takemura R. 2003. Biochemical and molecular characterization of diseases linked to motor proteins. Trends Biochem. Sci. 28:558-65
    • (2003) Trends Biochem. Sci , vol.28 , pp. 558-565
    • Hirokawa, N.1    Takemura, R.2
  • 49
    • 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, Jeong AB, D'Souza M, et al. 2001. 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. 69:1022-32
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 1022-1032
    • Huizing, M.1    Anikster, Y.2    Fitzpatrick, D.L.3    Jeong, A.B.4    D'Souza, M.5
  • 50
    • 18744385809 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: Vesicle formation from yeast to man
    • Huizing M, Boissy RE, Gahl WA. 2002. Hermansky-Pudlak syndrome: vesicle formation from yeast to man. Pigment Cell Res. 15:405-19
    • (2002) Pigment Cell Res , vol.15 , pp. 405-419
    • Huizing, M.1    Boissy, R.E.2    Gahl, W.A.3
  • 51
    • 0035990977 scopus 로고    scopus 로고
    • Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes
    • Huizing M, Gahl WA. 2002. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr. Mol. Med. 2:451-67
    • (2002) Curr. Mol. Med , vol.2 , pp. 451-467
    • Huizing, M.1    Gahl, W.A.2
  • 52
    • 4444367420 scopus 로고    scopus 로고
    • Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5
    • Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, et al. 2004. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic 5:711-22
    • (2004) Traffic , vol.5 , pp. 711-722
    • Huizing, M.1    Hess, R.2    Dorward, H.3    Claassen, D.A.4    Helip-Wooley, A.5
  • 54
    • 0036157244 scopus 로고    scopus 로고
    • Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
    • Huizing M, Scher C, Strovel E, Fitzpatrick D, Hartnell L, et al. 2002. Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr. Res. 51:150-58
    • (2002) Pediatr. Res , vol.51 , pp. 150-158
    • Huizing, M.1    Scher, C.2    Strovel, E.3    Fitzpatrick, D.4    Hartnell, L.5
  • 55
    • 31144475366 scopus 로고    scopus 로고
    • Intestinal disease in Hermansky-Pudlak syndrome: Occurrence of colitis and relation to genotype
    • Hussain N, Quezado M, Huizing M, Geho D, White JG, et al. 2006. Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. Clin. Gastroenterol. Hepatol. 4:73-80
    • (2006) Clin. Gastroenterol. Hepatol , vol.4 , pp. 73-80
    • Hussain, N.1    Quezado, M.2    Huizing, M.3    Geho, D.4    White, J.G.5
  • 56
    • 0032729471 scopus 로고    scopus 로고
    • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
    • Introne W, Boissy RE, Gahl WA. 1999. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol. Genet. Metab. 68:283-303
    • (1999) Mol. Genet. Metab , vol.68 , pp. 283-303
    • Introne, W.1    Boissy, R.E.2    Gahl, W.A.3
  • 57
    • 0035975946 scopus 로고    scopus 로고
    • The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors
    • Jordens I, Fernandez-Borja M, Marsman M, Dusseljee S, Janssen L, et al. 2001. The Rab7 effector protein RILP controls lysosomal transport by inducing the recruitment of dynein-dynactin motors. Curr. Biol. 11:1680-85
    • (2001) Curr. Biol , vol.11 , pp. 1680-1685
    • Jordens, I.1    Fernandez-Borja, M.2    Marsman, M.3    Dusseljee, S.4    Janssen, L.5
  • 59
    • 18244405827 scopus 로고    scopus 로고
    • Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
    • Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, et al. 2002. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am. J. Med. Genet. 108:16-22
    • (2002) Am. J. Med. Genet , vol.108 , pp. 16-22
    • Karim, M.A.1    Suzuki, K.2    Fukai, K.3    Oh, J.4    Nagle, D.L.5
  • 60
    • 15944399347 scopus 로고    scopus 로고
    • Perforin and lymphohistiocytic proliferative disorders
    • Katano H, Cohen JI. 2005. Perforin and lymphohistiocytic proliferative disorders. Br. J. Haematol. 128:739-50
    • (2005) Br. J. Haematol , vol.128 , pp. 739-750
    • Katano, H.1    Cohen, J.I.2
  • 62
    • 0036422093 scopus 로고    scopus 로고
    • Development of platelet secretory granules
    • King SM, Reed GL. 2002. Development of platelet secretory granules. Semin. Cell Dev. Biol. 13:293-302
    • (2002) Semin. Cell Dev. Biol , vol.13 , pp. 293-302
    • King, S.M.1    Reed, G.L.2
  • 63
    • 0031745886 scopus 로고    scopus 로고
    • Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules
    • Kjeldsen L, Calafat J, Borregaard N. 1998. Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules. J. Leukoc. Biol. 64:72-77
    • (1998) J. Leukoc. Biol , vol.64 , pp. 72-77
    • Kjeldsen, L.1    Calafat, J.2    Borregaard, N.3
  • 64
    • 33846562388 scopus 로고    scopus 로고
    • Complex inheritance pattern resembling autosomal recessive inhetitance involving a microdeletion in thrombocytopenia-absent radius syndrome
    • Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, et al. 2007. Complex inheritance pattern resembling autosomal recessive inhetitance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am. J. Hum. Genet. 80:232-40
    • (2007) Am. J. Hum. Genet , vol.80 , pp. 232-240
    • Klopocki, E.1    Schulze, H.2    Strauss, G.3    Ott, C.E.4    Hall, J.5
  • 66
    • 0036104999 scopus 로고    scopus 로고
    • Sorting out signals in fly endosomes
    • Kramer H. 2002. Sorting out signals in fly endosomes. Traffic 3:87-91
    • (2002) Traffic , vol.3 , pp. 87-91
    • Kramer, H.1
  • 67
    • 2942562170 scopus 로고    scopus 로고
    • Murine Hermansky-Pudlak syndrome genes: Regulators of lysosome-related organelles
    • Li W, Rusiniak ME, Chintala S, Gautam R, Novak EK, Swank RT. 2004. Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. BioEssays 26:616-28
    • (2004) BioEssays , vol.26 , pp. 616-628
    • Li, W.1    Rusiniak, M.E.2    Chintala, S.3    Gautam, R.4    Novak, E.K.5    Swank, R.T.6
  • 68
    • 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, Novak EK, Gautam R, et al. 2003. 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) Nat. Genet , vol.35 , pp. 84-89
    • Li, W.1    Zhang, Q.2    Oiso, N.3    Novak, E.K.4    Gautam, R.5
  • 69
    • 0032404540 scopus 로고    scopus 로고
    • Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery
    • Lloyd V, Ramaswami AI, Kramer H. 1998. Not just pretty eyes: Drosophila eye-colour mutations and lysosomal delivery. Trends Cell Biol. 8:257-59
    • (1998) Trends Cell Biol , vol.8 , pp. 257-259
    • Lloyd, V.1    Ramaswami, A.I.2    Kramer, H.3
  • 71
    • 0035490904 scopus 로고    scopus 로고
    • The melanosome: Membrane dynamics in black and white
    • Marks MS, Seabra MC. 2001. The melanosome: membrane dynamics in black and white. Nat. Rev. Mol. Cell Biol. 2:738-48
    • (2001) Nat. Rev. Mol. Cell Biol , vol.2 , pp. 738-748
    • Marks, M.S.1    Seabra, M.C.2
  • 73
    • 0043208690 scopus 로고    scopus 로고
    • BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4
    • Martina J, Moriyama K, Bonifacino J. 2003. BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. J. Biol. Chem. 278:29376-84
    • (2003) J. Biol. Chem , vol.278 , pp. 29376-29384
    • Martina, J.1    Moriyama, K.2    Bonifacino, J.3
  • 74
    • 0033165875 scopus 로고    scopus 로고
    • Platelet dense granules: Structure, function and implications for haemostasis
    • McNicol A, Israels SJ. 1999. Platelet dense granules: structure, function and implications for haemostasis. Thromb. Res. 95:1-18
    • (1999) Thromb. Res , vol.95 , pp. 1-18
    • McNicol, A.1    Israels, S.J.2
  • 75
    • 0019175608 scopus 로고
    • Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism
    • Meisler M, Levy J, Sansone F, Gordon M. 1980. Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism. Am. J. Pathol. 101:581-93
    • (1980) Am. J. Pathol , vol.101 , pp. 581-593
    • Meisler, M.1    Levy, J.2    Sansone, F.3    Gordon, M.4
  • 76
    • 0023811906 scopus 로고
    • Storage pool deficiency in cattle with the Chediak-Higashi syndrome results from an absence of dense granule precursors in their megakaryocytes
    • Menard M, Meyers KM. 1988. Storage pool deficiency in cattle with the Chediak-Higashi syndrome results from an absence of dense granule precursors in their megakaryocytes. Blood 72:1726-34
    • (1988) Blood , vol.72 , pp. 1726-1734
    • Menard, M.1    Meyers, K.M.2
  • 77
    • 0042388106 scopus 로고    scopus 로고
    • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
    • Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, et al. 2003. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J. Clin. Invest. 112:450-56
    • (2003) J. Clin. Invest , vol.112 , pp. 450-456
    • Menasche, G.1    Ho, C.H.2    Sanal, O.3    Feldmann, J.4    Tezcan, I.5
  • 78
    • 0344002689 scopus 로고    scopus 로고
    • Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
    • Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, et al. 2000. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat. Genet. 25:173-76
    • (2000) Nat. Genet , vol.25 , pp. 173-176
    • Menasche, G.1    Pastural, E.2    Feldmann, J.3    Certain, S.4    Ersoy, F.5
  • 79
    • 24344465919 scopus 로고    scopus 로고
    • Analysis of the kinesin superfamily: Insights into structure and function
    • Miki H, Okada Y, Hirokawa N. 2005. Analysis of the kinesin superfamily: insights into structure and function. Trends Cell Biol. 15:467-76
    • (2005) Trends Cell Biol , vol.15 , pp. 467-476
    • Miki, H.1    Okada, Y.2    Hirokawa, N.3
  • 80
    • 29244443387 scopus 로고    scopus 로고
    • A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
    • Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RAJ, et al. 2006. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am. J. Hum. Genet. 78:160-66
    • (2006) Am. J. Hum. Genet , vol.78 , pp. 160-166
    • Morgan, N.V.1    Pasha, S.2    Johnson, C.A.3    Ainsworth, J.R.4    Eady, R.A.J.5
  • 81
    • 0036701891 scopus 로고    scopus 로고
    • Organelle identity and the targeting of peripheral membrane proteins
    • Munro S. 2002. Organelle identity and the targeting of peripheral membrane proteins. Curr. Opin. Cell Biol. 14:506-14
    • (2002) Curr. Opin. Cell Biol , vol.14 , pp. 506-514
    • Munro, S.1
  • 82
    • 0033829367 scopus 로고    scopus 로고
    • Interstitial pneumonia in Hermansky-Pudlak syndrome: Significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes
    • Nakatani Y, Nakamuta N, Sano J, Inayama Y, Kawano N, et al. 2000. Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. Virchows. Arch. 437:304-13
    • (2000) Virchows. Arch , vol.437 , pp. 304-313
    • Nakatani, Y.1    Nakamuta, N.2    Sano, J.3    Inayama, Y.4    Kawano, N.5
  • 83
    • 0042307384 scopus 로고    scopus 로고
    • Biogenesis of lysosome-related organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    • Nazarian R, Falcon-Perez JM, Dell'Angelica EC. 2003. 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. USA 100:8770-75
    • (2003) Proc. Natl. Acad. Sci. USA , vol.100 , pp. 8770-8775
    • Nazarian, R.1    Falcon-Perez, J.M.2    Dell'Angelica, E.C.3
  • 85
    • 33646247180 scopus 로고    scopus 로고
    • Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein
    • Nazarian R, Starcevic M, Spencer MJ, Dell'Angelica EC. 2006. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem. J. 395:587-98
    • (2006) Biochem. J , vol.395 , pp. 587-598
    • Nazarian, R.1    Starcevic, M.2    Spencer, M.J.3    Dell'Angelica, E.C.4
  • 86
    • 0034052854 scopus 로고    scopus 로고
    • Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    • Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, et al. 2000. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat. Genet. 24:266-70
    • (2000) Nat. Genet , vol.24 , pp. 266-270
    • Nichols, K.E.1    Crispino, J.D.2    Poncz, M.3    White, J.G.4    Orkin, S.H.5
  • 87
    • 0023608663 scopus 로고
    • Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients
    • Nieuwenhuis HK, Akkerman JW, Sixma JJ. 1987. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: studies on one hundred six patients. Blood 70:620-23
    • (1987) Blood , vol.70 , pp. 620-623
    • Nieuwenhuis, H.K.1    Akkerman, J.W.2    Sixma, J.J.3
  • 88
    • 0029856044 scopus 로고    scopus 로고
    • A fusion pore phenotype in mast cells of the ruby-eye mouse
    • Oberhauser A, Fernandez J. 1996. A fusion pore phenotype in mast cells of the ruby-eye mouse. Proc. Natl. Acad. Sci. USA 93:14349-54
    • (1996) Proc. Natl. Acad. Sci. USA , vol.93 , pp. 14349-14354
    • Oberhauser, A.1    Fernandez, J.2
  • 89
    • 0032476017 scopus 로고    scopus 로고
    • The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals
    • Ohno H, Aguilar RC, Yeh D, Taura D, Saito T, Bonifacino JS. 1998. The medium subunits of adaptor complexes recognize distinct but overlapping sets of tyrosine-based sorting signals. J. Biol. Chem. 273:25915-21
    • (1998) J. Biol. Chem , vol.273 , pp. 25915-25921
    • Ohno, H.1    Aguilar, R.C.2    Yeh, D.3    Taura, D.4    Saito, T.5    Bonifacino, J.S.6
  • 90
    • 1842556755 scopus 로고    scopus 로고
    • The rat Ruby (R) locus is Rab38: Identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat substrain
    • Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. 2004. The rat Ruby (R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat substrain. Mamm. Genome 15:307-14
    • (2004) Mamm. Genome , vol.15 , pp. 307-314
    • Oiso, N.1    Riddle, S.R.2    Serikawa, T.3    Kuramoto, T.4    Spritz, R.A.5
  • 91
    • 33846163431 scopus 로고    scopus 로고
    • When intracellular logistics fails-genetic defects in membrane trafficking
    • Olkkonen VM, Ikonen E. 2006. When intracellular logistics fails-genetic defects in membrane trafficking. J. Cell Sci. 119:5031-45
    • (2006) J. Cell Sci , vol.119 , pp. 5031-5045
    • Olkkonen, V.M.1    Ikonen, E.2
  • 92
    • 0034693145 scopus 로고    scopus 로고
    • Kinectin-kinesin binding domains and their effects on organelle motility
    • Ong LL, Lim AP, Er CP, Kuznetsov SA, Yu H. 2000. Kinectin-kinesin binding domains and their effects on organelle motility. J. Biol. Chem. 275:32854-60
    • (2000) J. Biol. Chem , vol.275 , pp. 32854-32860
    • Ong, L.L.1    Lim, A.P.2    Er, C.P.3    Kuznetsov, S.A.4    Yu, H.5
  • 93
    • 0030914460 scopus 로고    scopus 로고
    • Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
    • Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, et al. 1997. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat. Genet. 16:289-92
    • (1997) Nat. Genet , vol.16 , pp. 289-292
    • Pastural, E.1    Barrat, F.J.2    Dufourcq-Lagelouse, R.3    Certain, S.4    Sanal, O.5
  • 94
    • 0035279058 scopus 로고    scopus 로고
    • SNAREs and the specificity of membrane fusion
    • Pelham HR. 2001. SNAREs and the specificity of membrane fusion. Trends Cell Biol. 11:99-101
    • (2001) Trends Cell Biol , vol.11 , pp. 99-101
    • Pelham, H.R.1
  • 96
    • 2942575037 scopus 로고    scopus 로고
    • Structure of the Rab7:REP-1 complex: Insights into the mechanism of Rab prenylation and choroideremia disease
    • Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K. 2004. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell 117:749-60
    • (2004) Cell , vol.117 , pp. 749-760
    • Rak, A.1    Pylypenko, O.2    Niculae, A.3    Pyatkov, K.4    Goody, R.S.5    Alexandrov, K.6
  • 97
    • 34648828526 scopus 로고    scopus 로고
    • Melanosomes-dark organelles enlighten endosomal membrane transport
    • Raposo G, Marks MS. 2007. Melanosomes-dark organelles enlighten endosomal membrane transport. Nat. Rev. Mol. Cell Biol. 8:786-97
    • (2007) Nat. Rev. Mol. Cell Biol , vol.8 , pp. 786-797
    • Raposo, G.1    Marks, M.S.2
  • 98
    • 34547929585 scopus 로고    scopus 로고
    • Lysosome-related organelles: Driving post-Golgi compartments into specialisation
    • Raposo G, Marks MS, Cutler DF. 2007. Lysosome-related organelles: driving post-Golgi compartments into specialisation. Curr. Opin. Cell Biol. 19:394-401
    • (2007) Curr. Opin. Cell Biol , vol.19 , pp. 394-401
    • Raposo, G.1    Marks, M.S.2    Cutler, D.F.3
  • 99
    • 0035911146 scopus 로고    scopus 로고
    • Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells
    • Raposo G, Tenza D, Murphy DM, Berson JF, Marks MS. 2001. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J. Cell Biol. 152:809-24
    • (2001) J. Cell Biol , vol.152 , pp. 809-824
    • Raposo, G.1    Tenza, D.2    Murphy, D.M.3    Berson, J.F.4    Marks, M.S.5
  • 100
    • 0034902812 scopus 로고    scopus 로고
    • The platelet release reaction: Granules' constituents, secretion and functions
    • Rendu F, Brohard-Bohn B. 2001. The platelet release reaction: granules' constituents, secretion and functions. Platelets 12:261-73
    • (2001) Platelets , vol.12 , pp. 261-273
    • Rendu, F.1    Brohard-Bohn, B.2
  • 101
    • 0034786578 scopus 로고    scopus 로고
    • Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with antisense HPS1 cDNA
    • Sarangarajan R, Budev A, Zhao Y, Gahl WA, Boissy RE. 2001. Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak syndrome and in melanoma cells transfected with antisense HPS1 cDNA. J. Invest. Dermatol. 117:641-46
    • (2001) J. Invest. Dermatol , vol.117 , pp. 641-646
    • Sarangarajan, R.1    Budev, A.2    Zhao, Y.3    Gahl, W.A.4    Boissy, R.E.5
  • 102
    • 0032550366 scopus 로고    scopus 로고
    • Conversion of membrane-bound Fas(CD95) ligand to its soluble form is associated with downregulation of its proapoptotic activity and loss of liver toxicity
    • Schneider P, Holler N, Bodmer JL, Hahne M, Frei K, et al. 1998. Conversion of membrane-bound Fas(CD95) ligand to its soluble form is associated with downregulation of its proapoptotic activity and loss of liver toxicity. J. Exp. Med. 187:1205-13
    • (1998) J. Exp. Med , vol.187 , pp. 1205-1213
    • Schneider, P.1    Holler, N.2    Bodmer, J.L.3    Hahne, M.4    Frei, K.5
  • 103
    • 38949136325 scopus 로고    scopus 로고
    • The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles
    • Schonthaler HB, Fleisch VC, Biehlmaier O, Makhankov Y, Rinner O, et al. 2008. The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles. Development 135:387-99
    • (2008) Development , vol.135 , pp. 387-399
    • Schonthaler, H.B.1    Fleisch, V.C.2    Biehlmaier, O.3    Makhankov, Y.4    Rinner, O.5
  • 104
    • 0036137684 scopus 로고    scopus 로고
    • Rab GTPases, intracellular traffic and disease
    • Seabra MC, Mules EH, Hume AN. 2002. Rab GTPases, intracellular traffic and disease. Trends Mol. Med. 8:23-30
    • (2002) Trends Mol. Med , vol.8 , pp. 23-30
    • Seabra, M.C.1    Mules, E.H.2    Hume, A.N.3
  • 105
    • 33947099464 scopus 로고    scopus 로고
    • BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
    • Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, et al. 2007. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol. Biol. Cell 18:768-80
    • (2007) Mol. Biol. Cell , vol.18 , pp. 768-780
    • Setty, S.R.1    Tenza, D.2    Truschel, S.T.3    Chou, E.4    Sviderskaya, E.V.5
  • 106
    • 9144274368 scopus 로고    scopus 로고
    • Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
    • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, et al. 2004. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat. Genet. 36:69-76
    • (2004) Nat. Genet , vol.36 , pp. 69-76
    • Sheen, V.L.1    Ganesh, V.S.2    Topcu, M.3    Sebire, G.4    Bodell, A.5
  • 107
    • 22544448096 scopus 로고    scopus 로고
    • A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
    • Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, Rapaport D, Goldsher D, et al. 2005. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am. J. Hum. Genet. 77:242-51
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 242-251
    • Sprecher, E.1    Ishida-Yamamoto, A.2    Mizrahi-Koren, M.3    Rapaport, D.4    Goldsher, D.5
  • 109
    • 3142580943 scopus 로고    scopus 로고
    • 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. 2004. 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). J. Biol. Chem. 279:28393-401
    • (2004) J. Biol. Chem , vol.279 , pp. 28393-28401
    • Starcevic, M.1    Dell'Angelica, E.C.2
  • 110
    • 0036423664 scopus 로고    scopus 로고
    • Formation and function of the ruffled border in osteoclasts
    • Stenbeck G. 2002. Formation and function of the ruffled border in osteoclasts. Semin. Cell Dev. Biol. 13:285-92
    • (2002) Semin. Cell Dev. Biol , vol.13 , pp. 285-292
    • Stenbeck, G.1
  • 111
    • 3042793578 scopus 로고    scopus 로고
    • Linking albinism and immunity: The secrets of secretory lysosomes
    • Stinchcombe J, Bossi G, Griffiths GM. 2004. Linking albinism and immunity: the secrets of secretory lysosomes. Science 305:55-59
    • (2004) Science , vol.305 , pp. 55-59
    • Stinchcombe, J.1    Bossi, G.2    Griffiths, G.M.3
  • 112
    • 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. 2002. A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport. J. Biol. Chem. 277:25423-30
    • (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
  • 113
  • 114
    • 0023179940 scopus 로고
    • The distribution of four lysosomal integral membrane proteins (LIMPs) in rat basophilic leukemia cells
    • Suarez-Quian CA. 1987. The distribution of four lysosomal integral membrane proteins (LIMPs) in rat basophilic leukemia cells. Tissue Cell 19:495-504
    • (1987) Tissue Cell , vol.19 , pp. 495-504
    • Suarez-Quian, C.A.1
  • 115
    • 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, Karim A, Novak EK, et al. 2002. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat. Genet. 30:321-24
    • (2002) Nat. Genet , vol.30 , pp. 321-324
    • Suzuki, T.1    Li, W.2    Zhang, Q.3    Karim, A.4    Novak, E.K.5
  • 117
    • 27644555189 scopus 로고    scopus 로고
    • Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes
    • Theos AC, Tenza D, Martina JA, Hurbain I, Peden AA, et al. 2005. Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Mol. Biol. Cell 16:5356-72
    • (2005) Mol. Biol. Cell , vol.16 , pp. 5356-5372
    • Theos, A.C.1    Tenza, D.2    Martina, J.A.3    Hurbain, I.4    Peden, A.A.5
  • 118
    • 0032798812 scopus 로고    scopus 로고
    • Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene
    • Toro J, Turner M, Gahl WA. 1999. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch. Dermatol. 135:774-80
    • (1999) Arch. Dermatol , vol.135 , pp. 774-780
    • Toro, J.1    Turner, M.2    Gahl, W.A.3
  • 120
    • 0028937177 scopus 로고
    • X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
    • Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, et al. 1995. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet. 9:414-17
    • (1995) Nat. Genet , vol.9 , pp. 414-417
    • Villa, A.1    Notarangelo, L.2    Macchi, P.3    Mantuano, E.4    Cavagni, G.5
  • 122
    • 0036428016 scopus 로고    scopus 로고
    • Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant
    • Weaver T, Na C, Stahlman M. 2002. Biogenesis of lamellar bodies, lysosome-related organelles involved in storage and secretion of pulmonary surfactant. Semin. Cell Dev. Biol. 13:263-70
    • (2002) Semin. Cell Dev. Biol , vol.13 , pp. 263-270
    • Weaver, T.1    Na, C.2    Stahlman, M.3
  • 123
    • 33645057693 scopus 로고    scopus 로고
    • Hermansky-Pudlak syndrome: A disease of protein trafficking and organelle function
    • Wei ML. 2006. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 19:19-42
    • (2006) Pigment Cell Res , vol.19 , pp. 19-42
    • Wei, M.L.1
  • 124
    • 0018673733 scopus 로고
    • Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4, β-thromboglobulin, and platelet-derived growth factor
    • Weiss HJ, Witte LD, Kaplan KL, Lages BA, Chernoff A, et al. 1979. Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in α-granules, platelet factor 4, β-thromboglobulin, and platelet-derived growth factor. Blood 54:1296-319
    • (1979) Blood , vol.54 , pp. 1296-1319
    • Weiss, H.J.1    Witte, L.D.2    Kaplan, K.L.3    Lages, B.A.4    Chernoff, A.5
  • 125
    • 34548587654 scopus 로고    scopus 로고
    • Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype
    • Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, et al. 2007. Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype. J. Invest. Dermatol. 127:2674-77
    • (2007) J. Invest. Dermatol , vol.127 , pp. 2674-2677
    • Westbroek, W.1    Adams, D.2    Huizing, M.3    Koshoffer, A.4    Dorward, H.5
  • 126
    • 0037336463 scopus 로고    scopus 로고
    • Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain
    • Westbroek W, Lambert J, Bahadoran P, Busca R, Herteleer MC, et al. 2003. Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain. J. Invest. Dermatol. 120:465-75
    • (2003) J. Invest. Dermatol , vol.120 , pp. 465-475
    • Westbroek, W.1    Lambert, J.2    Bahadoran, P.3    Busca, R.4    Herteleer, M.C.5
  • 127
    • 0037222432 scopus 로고    scopus 로고
    • Structural insights into actin-binding, branching and bundling proteins
    • Winder SJ. 2003. Structural insights into actin-binding, branching and bundling proteins. Curr. Opin. Cell Biol. 15:14-22
    • (2003) Curr. Opin. Cell Biol , vol.15 , pp. 14-22
    • Winder, S.J.1
  • 128
    • 0033969154 scopus 로고    scopus 로고
    • Wu X, Jung G, Hammer JA 3rd. 2000. Functions of unconventional myosins. Curr. Opin. Cell Biol. 12:12-51
    • Wu X, Jung G, Hammer JA 3rd. 2000. Functions of unconventional myosins. Curr. Opin. Cell Biol. 12:12-51
  • 129
    • 0036226156 scopus 로고    scopus 로고
    • Identification of an organelle receptor for myosin-Va
    • Wu X, Rao K, Zhang H, Wang F, Sellers J, et al. 2002. Identification of an organelle receptor for myosin-Va. Nat. Cell Biol. 4:271-78
    • (2002) Nat. Cell Biol , vol.4 , pp. 271-278
    • Wu, X.1    Rao, K.2    Zhang, H.3    Wang, F.4    Sellers, J.5
  • 130
    • 0034659852 scopus 로고    scopus 로고
    • Megakaryocyte dense granule components are sorted in multivesicular bodies
    • Youssefian T, Cramer EM. 2000. Megakaryocyte dense granule components are sorted in multivesicular bodies. Blood 95:4004-7
    • (2000) Blood , vol.95 , pp. 4004-4007
    • Youssefian, T.1    Cramer, E.M.2
  • 131
    • 20144363940 scopus 로고    scopus 로고
    • Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
    • zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, et al. 2005. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum. Mol. Genet. 14:827-34
    • (2005) Hum. Mol. Genet , vol.14 , pp. 827-834
    • zur Stadt, U.1    Schmidt, S.2    Kasper, B.3    Beutel, K.4    Diler, A.S.5


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