The Niemann-Pick C Proteins and Trafficking of Cholesterol Through the Late Endosomal / Lysosomal System

Authors: Garver W.S.; Heidenreich R.A.

Source: Current Molecular Medicine, Volume 2, Number 5, August 2002 , pp. 485-505(21)

Publisher: Bentham Science Publishers

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Abstract:

To maintain proper cellular function, the amount and distribution of cholesterol residing within cellular membranes must be regulated. The principal disorder affecting transport of cholesterol through the late endosomal / lysosomal system and intracellular cholesterol homeostasis is Niemann- Pick type C (NPC) disease. The genes responsible for NPC disease have been identified, and the encoded Niemann-Pick C1 (NPC1) and Niemann-Pick C2 (HE1 / NPC2) proteins are currently the subject of intense investigation. This review provides a detailed examination of NPC1 and HE1 / NPC2 in regulating the transport of cholesterol through the late endosomal / lysosomal system to other cellular compartments responsible for maintaining intracellular cholesterol homeostasis, and how defective function of these proteins may be responsible for the pathophysiology associated with NPC disease.

Keywords: niemann-pick type c; late endosome; npc disease; npc 1

Language: English

Document Type: Review article

DOI: http://dx.doi.org/10.2174/1566524023362375

Publication date: 2002-08-01

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Current Molecular Medicine is an interdisciplinary journal focused on providing the readership with current and comprehensive reviews on fundamental molecular mechanisms of disease pathogenesis, the development of molecular-diagnosis and/or novel approaches to rational treatment. The reviews should be of significant interest to basic researchers and clinical investigators in molecular medicine. Periodically the journal will invite guest editors to devote an issue on a basic research area that shows promise to advance our understanding of the molecular mechanism(s) of a disease or has potential for clinical applications.