Histone deacetylase inhibitors correct the cholesterol storage defect in most NPC1 mutant cells

Abstract excerpt

Niemann Pick C disease (NPC) is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes. The large majority of NPC disease is caused by mutations in NPC1, a large polytopic membrane protein that functions in late endosomes. There are many disease-associated mutations in NPC1, and most patients are compound heterozygotes. The most common mutati...

Topics

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• Endoplasmic Reticulum-Associated Degradation
• Endosomes
• Histone Deacetylase Inhibitors
• Hydroxamic Acids
• Lysosomes
• Niemann-Pick C1 Protein
• Niemann-Pick Disease, Type C
• Vorinostat

Identifiers and source

Literature Corpus work

6be1a695-f4b2-58c4-9ce8-80c74a54713e

DOI

10.1101/076695