The Niemann-Pick disease genes: regulators of cellular cholesterol homeostasis
DS Ory - Trends in cardiovascular medicine, 2004 - Elsevier
Cellular cholesterol homeostasis is maintained through activation of the designated sterol
regulatory element binding proteins and liver X receptor transcriptional pathways. Insight
into the molecular mechanisms that regulate these pathways has come from the study of
Niemann-Pick C (NPC) disease. Mutations in the NPC1 and NPC2 disease genes lead to
lysosomal accumulation of cholesterol and defects in regulation of sterol homeostatic
responses. NPC1 and NPC2 are key participants in intracellular cholesterol trafficking and …
regulatory element binding proteins and liver X receptor transcriptional pathways. Insight
into the molecular mechanisms that regulate these pathways has come from the study of
Niemann-Pick C (NPC) disease. Mutations in the NPC1 and NPC2 disease genes lead to
lysosomal accumulation of cholesterol and defects in regulation of sterol homeostatic
responses. NPC1 and NPC2 are key participants in intracellular cholesterol trafficking and …