Structure-activity relationships of oxysterol-derived pharmacological chaperones for Niemann-Pick type C1 protein.

Abstract excerpt

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...

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• Dose-Response Relationship, Drug
• Intracellular Signaling Peptides and Proteins
• Membrane Glycoproteins
• Molecular Structure
• Niemann-Pick C1 Protein