The NP-C gene: a key to pathways of intracellular cholesterol transport.
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.
Pentchev
P G
PG
Molecular and Cellular Pathophysiology Section, Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Blanchette-Mackie
E J
EJ
Dawidowicz
E A
EA