Erickson RP, Garver WS, Camargo F, Hossain GS, Heidenreich RA. 2000. Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. Journal of inherited metabolic disease. 23(1):54-62. Pubmed: 10682308


Niemann-Pick type C (NPC) is a neurodegenerative disorder with somatically altered cholesterol metabolism. The NPC1 gene has recently been cloned and shown to have sequences shared with known sterol-sensing proteins. We have used a mouse model with a disrupted Npc1 gene to study two cholesterol-lowering drugs (nifedipine and probucol) and the effects of introducing a null mutation in the low-density lipoprotein receptor (LDLR). Although these treatments significantly ameliorated liver cholesterol storage, little effect on the onset of neurological symptoms was found.

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The Camargo laboratory focuses on the study of adult stem cell biology, organ size regulation, and cancer.

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