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Subcellular localization of acid sphingomyelinase and lipid in Niemann-Pick mice

โœ Scribed by T. Sakiyama; K. Akashi; A. Akatsuka; M. Owada; S. Miyawaki; T. Kitagawa


Publisher
Springer
Year
1987
Tongue
English
Weight
276 KB
Volume
10
Category
Article
ISSN
0141-8955

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## Abstract Niemannโ€Pick type C1 (NPC1) disease is an autosomalโ€recessive cholesterolโ€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