The genetics of transcription factor DNA binding variation

B Deplancke, D Alpern, V Gardeux - Cell, 2016 - cell.com
Most complex trait-associated variants are located in non-coding regulatory regions of the
genome, where they have been shown to disrupt transcription factor (TF)-DNA binding …

Lipoprotein lipase: from gene to obesity

H Wang, RH Eckel - American Journal of Physiology …, 2009 - journals.physiology.org
Lipoprotein lipase (LPL) is a multifunctional enzyme produced by many tissues, including
adipose tissue, cardiac and skeletal muscle, islets, and macrophages. LPL is the rate …

Transcriptional regulatory elements in the human genome

GA Maston, SK Evans, MR Green - Annu. Rev. Genomics Hum …, 2006 - annualreviews.org
The faithful execution of biological processes requires a precise and carefully orchestrated
set of steps that depend on the proper spatial and temporal expression of genes. Here we …

Lipoprotein lipase: structure, function, regulation, and role in disease

JR Mead, SA Irvine, DP Ramji - Journal of molecular medicine, 2002 - Springer
Lipoprotein lipase (LPL) catalyses the hydrolysis of the triacylglycerol component of
circulating chylomicrons and very low density lipoproteins, thereby providing non-esterified …

Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease: a meta-analysis

HH Wittrup, A Tybjærg-Hansen, BG Nordestgaard - Circulation, 1999 - Am Heart Assoc
Background—We assessed in meta-analyses the effect of the Gly188Glu, Asp9Asn,
Asn291Ser, and Ser447Ter substitutions in lipoprotein lipase in the heterozygous state on …

Molecular mechanisms regulating hormone-sensitive lipase and lipolysis

C Holm, T Østerlund, H Laurell… - Annual review of …, 2000 - annualreviews.org
Hormone-sensitive lipase, the rate-limiting enzyme of intracellular TG hydrolysis, is a major
determinant of fatty acid mobilization in adipose tissue as well as other tissues. It plays a …

Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase

AG Clark, KM Weiss, DA Nickerson, SL Taylor… - The American Journal of …, 1998 - cell.com
Allelic variation in 9.7 kb of genomic DNA sequence from the human lipoprotein lipase gene
(LPL) was scored in 71 healthy individuals (142 chromosomes) from three populations …

[PDF][PDF] Lipoprotein lipase: physiology, biochemistry, and molecular biology

IJ Goldberg, M Merkel - Front Biosci, 2001 - article.imrpress.com
[Frontiers in Bioscience 6, d388-405, March 1, 2001] 388 LIPOPROTEIN LIPASE:
PHYSIOLOGY, BIOCHEMISTRY, AND MOLECULAR BIOLOGY Ira Page 1 [Frontiers in …

Molecular pathobiology of the human lipoprotein lipase gene

V Murthy, P Julien, C Gagné - Pharmacology & therapeutics, 1996 - Elsevier
Lipoprotein lipase (LPL; EC 3.1. 1.34) is a key enzyme in the metabolism of lipids. Many
diseases, including obesity, coronary heart disease, chylomicronemia (pancreatitis), and …

The familial chylomicronemia syndrome

S Santamarina-Fojo - Endocrinology and metabolism clinics of North …, 1998 - Elsevier
The chylomicronemia syndrome is a disorder characterized by severe fasting
hypertriglyceridemia and massive accumulations of chylomicrons in plasma that can lead to …