[HTML][HTML] Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells
Niemann-Pick type C1 (NPC1) is a late endosomal transmembrane protein, which, together
with NPC2 in the endosome lumen, mediates the transport of endosomal cholesterol to the
plasma membrane and endoplasmic reticulum. Loss of function of NPC1 or NPC2 leads to
cholesterol accumulation in late endosomes and causes neuronal dysfunction and
neurodegeneration. Recent studies indicate that cholesterol also accumulates in
mitochondria of NPC1-deficient cells and brain tissue and that NPC1 deficiency leads to …
with NPC2 in the endosome lumen, mediates the transport of endosomal cholesterol to the
plasma membrane and endoplasmic reticulum. Loss of function of NPC1 or NPC2 leads to
cholesterol accumulation in late endosomes and causes neuronal dysfunction and
neurodegeneration. Recent studies indicate that cholesterol also accumulates in
mitochondria of NPC1-deficient cells and brain tissue and that NPC1 deficiency leads to …