MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein
M Charman, BE Kennedy, N Osborne, B Karten - Journal of lipid research, 2010 - ASBMB
Niemann-Pick Type C (NPC) disease is a fatal, neurodegenerative disorder, caused in most
cases by mutations in the late endosomal protein NPC1. A hallmark of NPC disease is
endosomal cholesterol accumulation and an impaired cholesterol homeostatic response,
which might affect cholesterol transport to mitochondria and, thus, mitochondrial and cellular
function. This study aimed to characterize mitochondrial cholesterol homeostasis in NPC
disease. Using wild-type and NPC1-deficient Chinese hamster ovary cells, stably …
cases by mutations in the late endosomal protein NPC1. A hallmark of NPC disease is
endosomal cholesterol accumulation and an impaired cholesterol homeostatic response,
which might affect cholesterol transport to mitochondria and, thus, mitochondrial and cellular
function. This study aimed to characterize mitochondrial cholesterol homeostasis in NPC
disease. Using wild-type and NPC1-deficient Chinese hamster ovary cells, stably …
