Gene Therapy With Lipoprotein Lipase Variant S447X
نویسندگان
چکیده
منابع مشابه
Gene therapy with lipoprotein lipase variant S447X.
Variant S447X To the Editor: Ross et al recently reported a dazzling series of in vivo experiments1 showing reversal of abnormal biochemical phenotypes in Lpl / mice through adenoviral-mediated gene transfer of the socalled “gain-of-function” S447X prematurely truncated human variant of lipoprotein lipase (LPL or LIPD). Furthermore, all readouts in lipase-deficient mice treated with this human ...
متن کاملLipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Lipoprotein lipase (LPL) hydrolyzes triglycerides in the circulation and promotes the hepatic uptake of remnant lipoproteins. Since the gene was cloned in 1989, more than 100 LPL gene mutations have been identified, the majority of which cause loss of enzymatic function. In contrast to this, the naturally occurring LPL(S447X) variant is associated with increased lipolytic function and an anti-a...
متن کاملS447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population S447X Polymorphism in the Lipoprotein Lipase Gene and the Adiponectin Level in the General Population: Results from the Mima Study
Aim: Lipoprotein lipase (LPL) plays an important role in lipid metabolism. There is an association between the common S447X polymorphism in the LPL gene and high-density lipoprotein cholesterol (HDL-C) levels, and some association between circulating HDL-C and adiponectin levels has been suggested; however, it is not known whether there is any association between the S447X polymorphism and adip...
متن کاملThe lipoprotein lipase S447X polymorphism and plasma lipids: interactions with APOE polymorphisms, smoking, and alcohol consumption.
We studied 4,058 subjects from a representative sample of the Singapore population 1) to determine the association between the S447X polymorphism at the LPL locus and serum lipid concentration in Chinese, Malays, and Asian Indians living in Singapore and 2) to explore any interactions with apolipoprotein E (APOE) genotype, exercise, obesity, cigarette smoking, and alcohol intake. Information on...
متن کاملLipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineou...
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ژورنال
عنوان ژورنال: Arteriosclerosis, Thrombosis, and Vascular Biology
سال: 2005
ISSN: 1079-5642,1524-4636
DOI: 10.1161/01.atv.0000203502.01793.8d