selected publications
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academic article
- The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways.. American journal of physiology. Endocrinology and metabolism. 313:E183-E194. 2017
- Differential association of Niemann-Pick C1 gene polymorphisms with maternal prepregnancy overweight and gestational diabetes.. J Diabetes Obes. 2:1-6. 2015
- The Niemann-Pick C1 and caveolin-1 proteins interact to modulate efflux of low density lipoprotein-derived cholesterol from late endocytic compartments.. Journal of molecular biochemistry. 3:14-26. 2014
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.. American journal of human genetics. 94:734-744. 2014
- The genetics of childhood obesity and interaction with dietary macronutrients.. Genes & nutrition. 8:271-287. 2013
- The Niemann-Pick C1 gene is downregulated in livers of C57BL/6J mice by dietary fatty acids, but not dietary cholesterol, through feedback inhibition of the SREBP pathway.. The Journal of nutrition. 142:1935-1942. 2012
- Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.. Human molecular genetics. 20:312-321. 2011
- Decreased Npc1 gene dosage in mice is associated with weight gain.. Obesity (Silver Spring, Md.). 18:1457-1459. 2010
- The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.. Journal of lipid research. 51:406-415. 2010
- Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse.. Journal of cellular biochemistry. 101:498-516. 2007
- 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
- Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments.. Journal of lipid research. 41:673-687. 2000
- Differential Association of Niemann-Pick C1 Gene Polymorphisms with Maternal Prepregnancy Overweight and Gestational Diabetes.. Journal of diabetes and obesity. 2:-.
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chapter
- Seizures. Signs and Symptoms of Genetic Disorders. New York, NY: Oxford University Press. 209-234. 2014
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document
- The Niemann-Pick C1 gene interacts with a high-fat diet and modifying genes to promote weight gain.. American journal of medical genetics. Part A. 2317-2319. 2011
- The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction.. Gene. 112-113. 2015