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Volumn 343, Issue 15, 2000, Pages 1095-1104

Mechanisms of disease: Genetic defects of intracellular-membrane transport

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE BINDING PROTEIN; MYOSIN; N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; RAB PROTEIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; PROTEIN;

EID: 0034641833     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM200010123431507     Document Type: Review
Times cited : (53)

References (72)
  • 2
    • 0032587547 scopus 로고    scopus 로고
    • The β3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
    • (1999) Hum Mol Genet , vol.8 , pp. 323-330
    • Feng, L.1    Seymour, A.B.2    Jiang, S.3
  • 4
    • 0038361129 scopus 로고    scopus 로고
    • Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice
    • (1998) J Clin Invest , vol.101 , pp. 2042-2053
    • Janne, P.A.1    Suchy, S.F.2    Bernard, D.3
  • 29
    • 0032478548 scopus 로고    scopus 로고
    • Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
    • (1998) Cell , vol.93 , pp. 61-70
    • Nichols, W.C.1    Seligsohn, U.2    Zivelin, A.3
  • 33
    • 0030293220 scopus 로고    scopus 로고
    • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytophsmic organelles
    • (1996) Nat Genet , vol.14 , pp. 300-306
    • Oh, J.1    Bailin, T.2    Fukai, K.3
  • 36
    • 0029039291 scopus 로고
    • Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lyric granule exocytosis
    • (1995) J Immunol , vol.154 , pp. 6122-6131
    • Baetz, K.1    Isaaz, S.2    Griffiths, G.M.3
  • 39
    • 0032100704 scopus 로고    scopus 로고
    • Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: The Chediak-Higashi syndrome
    • (1998) J Cell Biol , vol.141 , pp. 1121-1134
    • Faigle, W.1    Raposo, G.2    Tenza, D.3
  • 43
    • 0032872611 scopus 로고    scopus 로고
    • Myosin Va movements in normal and dilute-lethal axons provide support for a dual filament motor complex
    • (1999) J Cell Biol , vol.146 , pp. 1045-1060
    • Bridgman, P.C.1
  • 56
    • 0026742127 scopus 로고
    • The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase
    • (1992) Nature , vol.358 , pp. 239-242
    • Attree, O.1    Olivos, I.M.2    Okabe, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.