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

Published: Jan 1, 2020
Abstract
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 NPC1 mutations. To study the...
Paper Details
Title
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1
Published Date
Jan 1, 2020
Journal
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