Associated Papers
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation.
Newton J et al.
The Journal of Biological Chemistry, 2020
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.
Colaco A et al.
Journal of Inherited Metabolic Disease, 2020
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Newton J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2017
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.
Xu M et al.
The Journal of Biological Chemistry, 2012
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.
Cologna SM et al.
Plos One, 2012
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