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Guilty until proven innocent: the case of NPC1 and cholesterol.

Abstract
Cholesterol accumulation in the endosomes and lysosomes of Niemann-Pick C (NPC) cells is considered to be the hallmark of this disorder, so the main focus of NPC research has revolved around cholesterol and its role in disease pathogenesis. However, recent data indicate that cholesterol is not the primary culprit in this human lipidosis. I propose a new hypothesis for the potential action or function of the NPC1 protein in the endosome. In this context, the relationship of NPC2 and NPC1 is also discussed.
AuthorsYiannis A Ioannou
JournalTrends in biochemical sciences (Trends Biochem Sci) Vol. 30 Issue 9 Pg. 498-505 (Sep 2005) ISSN: 0968-0004 [Print] England
PMID16054367 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References
  • Carrier Proteins
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • Niemann-Pick C1 Protein
  • Cholesterol
Topics
  • Carrier Proteins (physiology)
  • Cholesterol (metabolism, pharmacokinetics)
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Membrane Glycoproteins (physiology)
  • Models, Chemical
  • Niemann-Pick C1 Protein
  • Niemann-Pick Diseases (genetics, physiopathology)

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