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...

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Publicado en:Dis Model Mech
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7075069/
https://ncbi.nlm.nih.gov/pubmed/31996359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.042614
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