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Defect in fatty acid esterification of dolichol in Niemann–Pick type C1 mouse livers in vivo

✍ Scribed by Mikael Turunen; Sophia Schedin-Weiss

Book ID
116273175
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
313 KB
Volume
1771
Category
Article
ISSN
1388-1981

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## Abstract Niemann‐Pick type C1 (NPC1) disease is an autosomal‐recessive cholesterol‐storage disorder characterized by liver dysfunction, hepatosplenomegaly, and progressive neurodegeneration. The NPC1 gene is expressed in every tissue of the body, with liver expressing the highest amounts of NPC1