Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

doi:10.1023/a:1005474803278

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Article

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype.

Journal of inherited metabolic disease - 1 Dec 1998

Tint G S, Pentchev P, Xu G, Batta A K, Shefer S, Salen G, Honda A

Abstract excerpt

Niemann-Pick disease type C (NP-C) is a rare genetic disorder characterized by progressive neurodegeneration, frequent developmental delay and early death. Tissues of affected individuals accumulate large quantities of free cholesterol in lysosomes. Because cytotoxic oxygenated derivatives of cho...

Topics

Animals
Brain
Cholesterol
Kidney
Liver
Mice
Mice, Inbred BALB C
Niemann-Pick Diseases
Oxygen
Phenotype
Spleen

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