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Biological Implications of the Niemann-Pick C Mutation

  • Chapter
Cholesterol

Part of the book series: Subcellular Biochemistry ((SCBI,volume 28))

Abstract

The unique and varied membranes of a cell permit the compartmentalization of cellular functions. The synthesis of these distinct membrane domains is largely achieved through the protein and lipid sorting machinery of a cell. While an extensive experimental technology has evolved to study intracellular protein sorting (Rothman, 1994), cellular lipid topology has remained more a phenomenological science, with less progress made in elucidating specific molecular mechanisms. The relative paucity of experimental techniques available to study intracellular lipid trafficking has made the delineation of inherited metabolic defects particularly critical for delineating metabolic pathways of transport.

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Author information

Authors and Affiliations

  1. National Institute of Neurological Disorders and Stroke, Developmental and Metabolic Neurology Branch, National Institutes of Health, Bethesda, Maryland, 20892, USA

    Peter G. Pentchev

  2. Laboratory of Cell Biochemistry and Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, 20892, USA

    E. Joan Blanchette-Mackie

  3. Department of Physiology, Tufts University School of Medicine, Boston, Massachusetts, 02111, USA

    Laura Liscum

Authors
  1. Peter G. Pentchev
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  2. E. Joan Blanchette-Mackie
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  3. Laura Liscum
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Editor information

Editors and Affiliations

  1. Department of Chemistry and Biochemistry, Queens College of The City University of New York, Flushing, New York, 11367-1597, USA

    Robert Bittman

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© 1997 Springer Science+Business Media New York

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Pentchev, P.G., Joan Blanchette-Mackie, E., Liscum, L. (1997). Biological Implications of the Niemann-Pick C Mutation. In: Bittman, R. (eds) Cholesterol. Subcellular Biochemistry, vol 28. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5901-6_14

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  • DOI: https://doi.org/10.1007/978-1-4615-5901-6_14

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4613-7707-8

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