Summary
The deficiency of exogenous cholesterol transport within fibroblasts of Niemann-Pick disease type C (NPC) has been addressed. In this Report we confirmed that the endogenous synthesis of cholesterol within cells was markedly increased in NPC fibroblasts and those transformed by origin-defective simian virus 40. The transformed fibroblasts and those of the primary culture were hypersensitive to 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors as a consequence of their dependence on endogenous cholesterol biosynthesis. The transformed fibroblasts should help further biochemical and genetic research in this condition.
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Yamamoto, T., Ohashi, T., Tokoro, T. et al. Type C Niemann-Pick disease fibroblasts and their transformed cell lines are hypersensitive to HMG-CoA reductase inhibitors. J Inherit Metab Dis 17, 718–723 (1994). https://doi.org/10.1007/BF00712014
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DOI: https://doi.org/10.1007/BF00712014