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• W2105535112 abstract "Niemann-Pick disease type C is a fatal neurodegenerative disease, and its major cause is mutations in NPC1 gene. This gene encodes NPC1 protein, a late endosomal polytopic membrane protein required for intracellular cholesterol trafficking. One prevalent mutation (I1061T) has been shown to cause a folding defect, which results in failure of endosomal localization of the protein, leading to loss-of-function phenotype. We have previously demonstrated that several oxysterols and their derivatives act as pharmacological chaperones; binding of these compounds to NPC1(I1061T) mutant protein corrects the localization/maturation defect of the mutant protein. Here, we disclose detailed structure-activity relationships of oxysterol derivatives as pharmacological chaperones for NPC1(I1061T) mutant." @default.
• W2105535112 created "2016-06-24" @default.
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• W2105535112 date "2014-08-01" @default.
• W2105535112 modified "2023-10-03" @default.
• W2105535112 title "Structure–activity relationships of oxysterol-derived pharmacological chaperones for Niemann–Pick type C1 protein" @default.
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• W2105535112 doi "https://doi.org/10.1016/j.bmcl.2014.05.064" @default.
• W2105535112 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24928400" @default.
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