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90 Hepatic mitochondrial free cholesterol accumulation in the Niemann-pick C disease

✍ Scribed by M. Mari; F. Caballero; A. Colell; C. Garcia-Ruiz; J.C. Fernandez-Checa


Book ID
117374370
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
153 KB
Volume
44
Category
Article
ISSN
0168-8278

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Niemann-Pick type C (NPC) disease develops as a result of mutations in the NPC1 gene that encodes a protein involved in the net movement of unesterified cholesterol from the late endosomal/lysosomal compartment to the metabolically active pool of sterol in the cytosol of virtually every cell in the