Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

• Main Authors: Jorge L. Rodriguez-Gil (Author), Dawn E. Watkins-Chow (Author), Laura L. Baxter (Author), Gene Elliot (Author), Ursula L. Harper (Author), Stephen M. Wincovitch (Author), Julia C. Wedel (Author), Arturo A. Incao (Author), Mylene Huebecker (Author), Frederick J. Boehm (Author), William S. Garver (Author), Forbes D. Porter (Author), Karl W. Broman (Author), Frances M. Platt (Author), William J. Pavan (Author)
• Format: Book
• Published: The Company of Biologists, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 e...