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

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

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...

Full description

Bibliographic Details
Main Authors: Jorge L. Rodriguez-Gil, Dawn E. Watkins-Chow, Laura L. Baxter, Gene Elliot, Ursula L. Harper, Stephen M. Wincovitch, Julia C. Wedel, Arturo A. Incao, Mylene Huebecker, Frederick J. Boehm, William S. Garver, Forbes D. Porter, Karl W. Broman, Frances M. Platt, William J. Pavan
Format: Article
Language:English
Published: The Company of Biologists 2020-03-01
Series:Disease Models & Mechanisms
Subjects:
niemann-pick disease type c1
npc1
mouse models
genetic modifiers
Online Access:http://dmm.biologists.org/content/13/3/dmm042614

Internet

http://dmm.biologists.org/content/13/3/dmm042614

Similar Items