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Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol

✍ Scribed by Roff, Calvin F. ;Goldin, Ehud ;Comly, Marcella E. ;Blanchette-Mackie, Joan ;Cooney, Adele ;Brady, Roscoe O. ;Pentchev, Peter G.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
768 KB
Volume
42
Category
Article
ISSN
0148-7299

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Niemann-Pick C (NPC) disease is an autosomal recessive lipidosis characterized by lysosomal accumulations of unesterified cholesterol. Cultured NPC cells exhibit a defect in the intracellular trafficking of LDL-derived cholesterol that leads to lysosomal accumulations of unesterified cholesterol. We