Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans

The relative activity of lipoprotein lipase (LPL) in different tissues controls the partitioning of lipoprotein-derived fatty acids between sites of fat storage (adipose tissue) and oxidation (heart and skeletal muscle). Here we used a reverse genetic strategy to test the hypothesis that 4 angiopoie...

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Veröffentlicht in:	The Journal of clinical investigation Jg. 119; H. 1; S. 70 - 79
Hauptverfasser:	Romeo, Stefano, Yin, Wu, Kozlitina, Julia, Pennacchio, Len A., Boerwinkle, Eric, Hobbs, Helen H., Cohen, Jonathan C.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States American Society for Clinical Investigation 01.01.2009
Schlagworte:	Alleles Amino Acid Sequence Angiopoietin-like Proteins Angiopoietins - genetics Angiopoietins - metabolism Animals Atherosclerosis Biomedical research Body fat Cell Line Cholesterol Ethnic Groups - genetics Fatty acids Gene mutations Genetic Variation Health aspects Heart High density lipoprotein Humans Hypotheses Lipid metabolism Liver Low density lipoprotein Metabolism Mice Musculoskeletal system Mutation Oxidation Physiological aspects Physiology Plasma Protein Isoforms - genetics Protein Isoforms - metabolism Proteins Tissue Distribution Triglycerides Triglycerides - blood United States
ISSN:	0021-9738, 1558-8238
Online-Zugang:	Volltext
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