Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

DOI Web Site 被引用文献70件
  • Eugene D. Carstea
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Jill A. Morris
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Katherine G. Coleman
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Stacie K. Loftus
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Dana Zhang
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Christiano Cummings
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Jessie Gu
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Melissa A. Rosenfeld
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • William J. Pavan
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • David B. Krizman
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • James Nagle
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Mihail H. Polymeropoulos
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Stephen L. Sturley
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Yiannis A. Ioannou
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Maureen E. Higgins
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Marcella Comly
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Adele Cooney
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Anthony Brown
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Christine R. Kaneski
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • E. Joan Blanchette-Mackie
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Nancy K. Dwyer
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Edward B. Neufeld
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Ta-Yuan Chang
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Laura Liscum
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Jerome F. Strauss
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Kousaku Ohno
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Marsha Zeigler
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Rivka Carmi
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Jacob Sokol
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • David Markie
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Raymond R. O'Neill
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • O. P. van Diggelen
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Milan Elleder
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Marc C. Patterson
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Roscoe O. Brady
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Marie T. Vanier
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Peter G. Pentchev
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
  • Danilo A. Tagle
    E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

抄録

<jats:p> Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)–derived cholesterol. By positional cloning methods, a gene ( <jats:italic>NPC1)</jats:italic> with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type <jats:italic>NPC1</jats:italic> cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278–amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase. </jats:p>

収録刊行物

  • Science

    Science 277 (5323), 228-231, 1997-07-11

    American Association for the Advancement of Science (AAAS)

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