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Current Molecular Medicine
ISSN (Print): 1566-5240
ISSN (Online): 1875-5666
VOLUME: 2
ISSUE: 5
DOI: 10.2174/1566524023362375      Price:  $58









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

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Author(s): William S. Garver and Randall A. Heidenreich
Pages 485-505 (21)
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
Affiliation:
Section of Molecular Genetics, Department of Pediatrics, Arizona Health Sciences Center,The University of Arizona, 1501 N. Campbell Avenue, Tucson, AZ 85724,USA