The NP-C gene: a key to pathways of intracellular cholesterol transport |
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| Authors: | Pentchev P G Blanchette-Mackie E J Dawidowicz E A |
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| Affiliation: | Molecular and Cellular Pathophysiology Section, Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. |
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| Abstract: | Elucidation of the pathways for intracellular transport of cholesterol is an important yet elusive goal in cell biology. Analysis of the cellular defects in the human disease Niemann-Pick C (NP-C) is providing insights into this problem. Cholesterol derived from low-density lipoprotein accumulates in lysosomes of NP-C cells, apparently because intracellular movement of such cholesterol is blocked. Identification of the NP-C gene should provide crucial molecular clues to the mechanism of cholesterol transport within cells. |
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