Four cholesterol-sensing proteins.
What is the connection among the following three medical conditions: Niemann-Pick type C disease (a cause of mental retardation and early death), systemic lipidosis (in which an obscure side effect of numerous drugs transforms lysosomes into lamellar bodies), and holoprosencephaly (a catastrophe in embryonic development)? Recent evidence suggests that the pathogenesis in each use involves impaired sensing of cellular cholesterol.
Lange
Y
Y
Department of Pathology, Rush Presbyterian St Luke's Medical Center, Chicago, IL 60612, USA. ylange@rush.edu
Steck
T L
TL
D002352:Carrier Proteins; D002784:Cholesterol / Q000378:metabolism*; D016142:Holoprosencephaly / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000737:chemistry / Q000378:metabolism; D047908:Intracellular Signaling Peptides and Proteins; D008064:Lipidoses / Q000378:metabolism; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000737:chemistry / Q000378:metabolism*; D000077296:Niemann-Pick C1 Protein; D009542:Niemann-Pick Diseases / Q000378:metabolism; D000072079:Patched Receptors; D011506:Proteins / Q000737:chemistry / Q000378:metabolism; D011956:Receptors, Cell Surface
D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; C106881:NPC1 protein, human; D000077296:Niemann-Pick C1 Protein; D000072079:Patched Receptors; D011506:Proteins; D011956:Receptors, Cell Surface; C102196:SREBP cleavage-activating protein; D002784:Cholesterol; D006903:Hydroxymethylglutaryl CoA Reductases