selected publications
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academic article
- The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.. Journal of lipid research. 51:406-415. 2010
- Physiological and coordinate downregulation of the NPC1 and NPC2 genes are associated with the sequestration of LDL-derived cholesterol within endocytic compartments. 2009
- The Niemann-Pick C1 gene is downregulated by feedback inhibition of the SREBP pathway in human fibroblasts.. Journal of lipid research. 49:1090-1102. 2008
- The National Niemann-Pick C1 disease database: report of clinical features and health problems.. American journal of medical genetics. Part A. 143A:1204-1211. 2007
- Niemann-Pick C1 protein regulates cholesterol transport to the trans-Golgi network and plasma membrane caveolae.. Journal of lipid research. 43:579-589. 2002