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Volumn 65, Issue 5, 1999, Pages 1252-1260

Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN;

EID: 0033358193     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302620     Document Type: Article
Times cited : (93)

References (32)
  • 3
    • 0030941803 scopus 로고    scopus 로고
    • The SREBP pathway: Regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor
    • Brown M, Goldstein JL (1997) The SREBP pathway: regulation of cholesterol metabolism by proteolysis of a membrane-bound transcription factor. Cell 89:331-340
    • (1997) Cell , vol.89 , pp. 331-340
    • Brown, M.1    Goldstein, J.L.2
  • 6
    • 0027239790 scopus 로고
    • The RING finger: A novel protein sequence motif related to the zinc finger
    • Freemont PS (1993) The RING finger: a novel protein sequence motif related to the zinc finger. Ann NY Acad Sci 684: 174-192
    • (1993) Ann NY Acad Sci , vol.684 , pp. 174-192
    • Freemont, P.S.1
  • 7
    • 0025120211 scopus 로고
    • Regulation of the mevalonate pathway
    • Goldstein JL, Brown M (1990) Regulation of the mevalonate pathway. Nature 343:425-430
    • (1990) Nature , vol.343 , pp. 425-430
    • Goldstein, J.L.1    Brown, M.2
  • 8
    • 0030027059 scopus 로고    scopus 로고
    • Conservation of the hedgehog/patched signaling pathway from flies to mice: Induction of a mouse patched gene by Hedgehog
    • Goodrich LV, Johnson RL, Milenkovic L, McMahon JA, Scott MP (1996) Conservation of the hedgehog/patched signaling pathway from flies to mice: induction of a mouse patched gene by Hedgehog. Genes Dev 10:301-312
    • (1996) Genes Dev , vol.10 , pp. 301-312
    • Goodrich, L.V.1    Johnson, R.L.2    Milenkovic, L.3    McMahon, J.A.4    Scott, M.P.5
  • 13
    • 0026207465 scopus 로고
    • PCR-SSCP: A simple and sensitive method for detection of mutations in the genomic DNA
    • Hayashi K (1991) PCR-SSCP: a simple and sensitive method for detection of mutations in the genomic DNA. PCR Methods Appl 1:34-38
    • (1991) PCR Methods Appl , vol.1 , pp. 34-38
    • Hayashi, K.1
  • 18
    • 0031742639 scopus 로고    scopus 로고
    • Niemann-Pick C disease: Cholesterol handling gone awry
    • Morris JA, Carstea ED (1998) Niemann-Pick C disease: cholesterol handling gone awry. Mol Med Today 4:525-531
    • (1998) Mol Med Today , vol.4 , pp. 525-531
    • Morris, J.A.1    Carstea, E.D.2
  • 20
    • 0033515560 scopus 로고    scopus 로고
    • The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
    • Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, et al (1999) The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem 274: 9627-9635
    • (1999) J Biol Chem , vol.274 , pp. 9627-9635
    • Neufeld, E.B.1    Wastney, M.2    Patel, S.3    Suresh, S.4    Cooney, A.M.5    Dwyer, N.K.6    Roff, C.F.7
  • 21
    • 0032479439 scopus 로고    scopus 로고
    • Topology of SREBP cleavage-activating protein, a polytopic membrane protein with a sterol-sensing domain
    • Nohturfft A, Brown MS, Goldstein JL (1998) Topology of SREBP cleavage-activating protein, a polytopic membrane protein with a sterol-sensing domain. J Biol Chem 273: 17243-17250
    • (1998) J Biol Chem , vol.273 , pp. 17243-17250
    • Nohturfft, A.1    Brown, M.S.2    Goldstein, J.L.3
  • 22
    • 0026673416 scopus 로고
    • The intracellular targeting and membrane topology of 3-hydroxy-3-methylglutaryl-CoA reductase
    • Olender EH, Simon RD (1992) The intracellular targeting and membrane topology of 3-hydroxy-3-methylglutaryl-CoA reductase. J Biol Chem 267:4223-4235
    • (1992) J Biol Chem , vol.267 , pp. 4223-4235
    • Olender, E.H.1    Simon, R.D.2
  • 25
    • 0025932536 scopus 로고
    • A putative zinc finger protein, Saccharomyces cerevisiae Vps18p, affects late Golgi functions required for vacuolar protein sorting and efficient α-factor prohormone maturation
    • Robinson JS, Graham TR, Emr SD (1991) A putative zinc finger protein, Saccharomyces cerevisiae Vps18p, affects late Golgi functions required for vacuolar protein sorting and efficient α-factor prohormone maturation. Mol Cell Biol 12: 5813-5824
    • (1991) Mol Cell Biol , vol.12 , pp. 5813-5824
    • Robinson, J.S.1    Graham, T.R.2    Emr, S.D.3
  • 26
    • 0027665740 scopus 로고
    • Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and rype D fibroblasts
    • Sidhu H, Rastogi SAR, Byers DM, Guernsey DL, Cook HW, Palmer FBStC, Spence MW (1993) Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and rype D fibroblasts. Biochem Cell Biol 71: 467-474
    • (1993) Biochem Cell Biol , vol.71 , pp. 467-474
    • Sidhu, H.1    Rastogi, S.A.R.2    Byers, D.M.3    Guernsey, D.L.4    Cook, H.W.5    Palmer, F.B.St.C.6    Spence, M.W.7
  • 27
    • 0002588480 scopus 로고
    • Sphingomyelin-cholesterol lipidoses: The Niemann-Pick group of diseases
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
    • Spence MW, Callahan JW (1989) Sphingomyelin-cholesterol lipidoses: the Niemann-Pick group of diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 6th ed. McGraw-Hill, New York, pp 1655-1676
    • (1989) The Metabolic and Molecular Bases of Inherited Disease, 6th Ed. , pp. 1655-1676
    • Spence, M.W.1    Callahan, J.W.2
  • 28
    • 0028330236 scopus 로고
    • Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
    • Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 313:317-320
    • (1994) J Med Genet , vol.313 , pp. 317-320
    • Steinberg, S.J.1    Ward, C.P.2    Fensom, A.H.3
  • 29
    • 0027968068 scopus 로고
    • CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
    • Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22: 4673-4680
    • (1994) Nucleic Acids Res , vol.22 , pp. 4673-4680
    • Thompson, J.D.1    Higgins, D.G.2    Gibson, T.J.3
  • 30
    • 0029655528 scopus 로고    scopus 로고
    • Genetic heterogeneity in Niemann-Pick C disease: A study using cell hybridization and linkage analysis
    • Vanier MT, Duthel S, Rodriguez-Lafrasse C, Penchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C Disease: a study using cell hybridization and linkage analysis. Am J Hum Genet 58:118-125
    • (1996) Am J Hum Genet , vol.58 , pp. 118-125
    • Vanier, M.T.1    Duthel, S.2    Rodriguez-Lafrasse, C.3    Penchev, P.4    Carstea, E.D.5
  • 32
    • 0018168776 scopus 로고
    • Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)
    • Winsor EJT, Welch JP (1978) Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D). Am J Hum Genet 30:530-538
    • (1978) Am J Hum Genet , vol.30 , pp. 530-538
    • Winsor, E.J.T.1    Welch, J.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.