منابع مشابه
A DNA polymorphism for LCAT is associated with altered LCAT activity and high density lipoprotein size distributions in baboons.
A polymorphic Pvu II site was mapped to intron 5 of LCAT, the gene encoding baboon lecithin: cholesterol acyltransferase (LCAT). In a study of 83 baboons, heterozygous baboons (Pv1/Pv2) had significantly higher LCAT enzyme activity levels than did baboons homozygous for the more common allele (Pv1/Pv1). LCAT genotype explained 6% of the total variation in LCAT enzyme activity. To test for allel...
متن کاملRecombinant human LCAT normalizes plasma lipoprotein profile in LCAT deficiency.
Lecithin:cholesterol acyltransferase (LCAT) is the enzyme responsible for cholesterol esterification in plasma. Mutations in the LCAT gene leads to two rare disorders, familial LCAT deficiency and fish-eye disease, both characterized by severe hypoalphalipoproteinemia associated with several lipoprotein abnormalities. No specific treatment is presently available for genetic LCAT deficiency. In ...
متن کاملTwo novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser).
We investigated the genetic defects in two patients with familial lecithin:cholesterol acyltransferase (LCAT) deficiency. Their clinical manifestations including corneal opacities, anemia, proteinuria, and hypoalphalipoproteinemia were identical for familial LCAT deficiency. Their LCAT activities and the cholesterol esterification rate (CER) were nearly zero, and their LCAT masses were below 10...
متن کاملLcat Structure and Function
Journal of Lipid Research Volume 53, 2012 1783 Copyright © 2012 by the American Society for Biochemistry and Molecular Biology, Inc. removal of excess cholesterol from macrophages in the arterial wall and subsequent delivery to the liver for biliary excretion. Interest in the enzyme increased even further when in 1967 the fi rst family with three sisters with familial LCAT defi ciency was descr...
متن کاملBioruptor® NGS: Unbiased DNA shearing for Next-Generation Sequencing
Wouter Coppieters, PhD, and his colleagues operate the genomics core facility at the GIGA center, University of Liège (Belgium). The center routinely performs a variety of Next-Generation Sequencing (NGS) applications including de novo sequencing, whole genome and amplicon sequencing, and targeted resequencing on an Illumina GAIIx analyzer. Coppieters recognizes that optimal sequencing results ...
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ژورنال
عنوان ژورنال: Journal of Laboratory Automation
سال: 2014
ISSN: 2211-0682,1540-2452
DOI: 10.1177/2211068213495546