Article
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
Disease models & mechanisms - 13 Mar 2020
Rodriguez-Gil Jorge L, Watkins-Chow Dawn E, Baxter Laura L, Elliot Gene, Harper Ursula L, Wincovitch Stephen M, Wedel Julia C, Incao Arturo A, Huebecker Mylene, Boehm Frederick J, Garver William S, Porter Forbes D, Broman Karl W, Platt Frances M, Pavan William J
Abstract excerpt
Niemann-Pick disease type C1 (NPC1) is a rare, fatal neurodegenerative disorder characterized by lysosomal accumulation of unesterified cholesterol and glycosphingolipids. These subcellular pathologies lead to phenotypes of hepatosplenomegaly, neurological degeneration and premature death. NPC1 is extremely heterogeneous in the timing of clinical presentation and is associated with a wide spectrum of causative...
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