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...

詳細記述

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書誌詳細
出版年:Dis Model Mech
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: The Company of Biologists Ltd 2020
主題:
Research Article
オンライン･アクセス: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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