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Volumn 86, Issue 1, 2001, Pages 233-245

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: Disorders of vesicle formation and trafficking

Author keywords

Albinism; Giant lysosomes; Intracellular trafficking; LYST; Platelet dense bodies

Indexed keywords

AMINOCAPROIC ACID; ANTIINFECTIVE AGENT; ANTIINFLAMMATORY AGENT; ASCORBIC ACID; CORTICOSTEROID DERIVATIVE; DESMOPRESSIN; GELFOAM; IMMUNOGLOBULIN; PIRFENIDONE; STEROID; THROMBIN;

EID: 0034911704     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1616221     Document Type: Conference Paper
Times cited : (107)

References (145)
  • 7
    • 6444236367 scopus 로고
    • Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies
    • (1959) Blood , vol.14 , pp. 162-169
    • Hermansky, F.1    Pudlak, P.2
  • 9
    • 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
    • (1999) Arch Dermatol , vol.135 , pp. 774-780
    • Toro, J.1    Turner, M.2    Gahl, W.A.3
  • 30
    • 0032913013 scopus 로고    scopus 로고
    • Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
    • (1999) Hum Mutat , vol.13 , pp. 99-115
    • Oetting, W.S.1    King, R.A.2
  • 35
    • 0034030851 scopus 로고    scopus 로고
    • Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; Relevance for mutation detection
    • (2000) Hum Genet , vol.106 , pp. 370-373
    • Huizing, M.1    Anikster, Y.2    Gahl, W.A.3
  • 45
    • 0026806542 scopus 로고
    • A His-Leu-Leu sequence near the carboxyl terminus of the cytoplasmic domain of the cation-dependent mannose 6-phosphate receptor is necessary for the lysosomal enzyme sorting function
    • (1992) J Biol Chem , vol.267 , pp. 17110-17115
    • Johnson, K.F.1    Kornfeld, S.2
  • 47
  • 48
    • 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
    • (1998) Lab Invest , vol.78 , pp. 1037-1048
    • Boissy, R.E.1    Zhao, Y.2    Gahl, W.A.3
  • 73
    • 0030830765 scopus 로고    scopus 로고
    • A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole
    • (1997) Mol Biol Cell , vol.8 , pp. 2307-2327
    • Rieder, S.E.1    Emr, S.D.2
  • 75
    • 0032563630 scopus 로고    scopus 로고
    • Acidic di-leucine motif essential for AP3-dependent sorting and restriction of the functional specificity of the Vam3p vacuolar t-SNARE
    • (1998) J Cell Biol , vol.142 , pp. 913-922
    • Dorsow, T.1    Burd, C.G.2    Emr, S.D.3
  • 80
    • 84924838625 scopus 로고
    • Nouvelle anomalie leukocytaire de caractere constitutionnel et familiel
    • (1952) Rev Hematol , vol.7 , pp. 362-367
    • Chediak, M.1
  • 83
  • 87
    • 0015365620 scopus 로고
    • The Chediak-Higashi syndrome: Studies in four patients and a review of the literature
    • (1972) Medicine , vol.51 , pp. 247-280
    • Blume, R.S.1    Wolff, S.M.2
  • 114
    • 0030048731 scopus 로고    scopus 로고
    • Identification of a protein that interacts with tubulin dimers and increases the catastrophe rate of microtubules
    • (1996) Cell , vol.84 , pp. 623-631
    • Belmont, L.D.1    Mitchinson, T.J.2
  • 120
    • 0026768539 scopus 로고
    • Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: Identification of a novel gene (CDC4C) with homology to yeast CDC4
    • (1992) Genomics , vol.13 , pp. 1237-1246
    • Feuchter, A.E.1    Freeman, J.D.2    Mager, D.L.3
  • 127
    • 0017958814 scopus 로고
    • Platelet microtubules and giant granules in Chediak-Higashi syndrome
    • (1978) Am J Med Tech , vol.44 , pp. 273-278
    • White, J.G.1
  • 129
    • 0033844501 scopus 로고    scopus 로고
    • Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice-a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts
    • (2000) J Leukocyte Biol , vol.67 , pp. 749-755
    • Tanabe, F.1    Cui, S.-H.2    Ito, M.3
  • 134
    • 0033515592 scopus 로고    scopus 로고
    • Phosphoinositide 3-kinase and their FYVE domain-containing effectors as regulators of vacuolar/lysosomal membrane trafficking pathways
    • (1999) J Biol Chem , vol.274 , pp. 9129-9132
    • Wurmser, A.E.1    Gary, J.D.2    Emr, S.D.3
  • 136
    • 0029123267 scopus 로고
    • Wortmannin causes mistargeting of procathepsin D. Evidence for the involvement of a phosphatidylinositol 3-kinase in vesicular transport to lysosomes
    • (1995) J Cell Biol , vol.130 , pp. 797-805
    • Davidson, H.W.1
  • 138
    • 0027256130 scopus 로고
    • A membrane-associated complex containing the VPS15 protein kinase and the VPS34 PI 3-kinase is essential for protein sorting to the yeast lysosome-like vacuole
    • (1993) EMBO J , vol.12 , pp. 2195-2204
    • Stack, J.H.1    Herman, P.K.2    Schu, P.V.3    Emr, S.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.