| First Author | Erickson RP | Year | 2000 |
| Journal | J Inherit Metab Dis | Volume | 23 |
| Issue | 1 | Pages | 54-62 |
| PubMed ID | 10682308 | Mgi Jnum | J:60459 |
| Mgi Id | MGI:1353340 | Doi | 10.1023/a:1005650930330 |
| Citation | Erickson RP, et al. (2000) Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice. J Inherit Metab Dis 23(1):54-62 |
| abstractText | 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. |
