[HTML][HTML] Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells
NH Pipalia, K Subramanian, S Mao, H Ralph… - Journal of lipid …, 2017 - ASBMB
Niemann-Pick C (NPC) disease 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 mutation, NPC1 I1061T, has
been shown to cause endoplasmic reticulum-associated degradation of the NPC1 protein …
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 mutation, NPC1 I1061T, has
been shown to cause endoplasmic reticulum-associated degradation of the NPC1 protein …