[PDF] Top 20 Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
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Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency
... the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL ...five patients are homozygotes for distinct point mutations dispersed ... See full document
10
Mutations in the human lipoprotein lipase gene and their relationship to hyperlipidaemia
... combined lipase deficiency mutation in mice where a defect in the glycosylation process prevents the secretion of functional LPL and HL (Olivecrona et ... See full document
322
Small and dense LDL in familial combined hyperlipidemia and N291S polymorphism of the lipoprotein lipase gene
... FCH patients with phenotype B of LDL show a clearly atherogenic lipid ...risk patients, including those with this atherogenic lipoprotein profile, may ben- efit from more potent lipid-lowering ... See full document
5
Molecular studies on primary lipoprotein lipase (LPL) deficiency One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript
... We have systematically investigated a genetic defect resulting in a primary lipoprotein lipase (LPL) deficiency in a proband TN and his affected brother SN, both manifesting familial ... See full document
12
Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy
... in patients with diabetes, potentially affecting the progression of their atherosclerosis [4 – ...loss-of-function mutations in apolipoprotein A5 ( APOA5 ), which is an activator of LPL , increases the ... See full document
6
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene
... Complete deficiency of lipoprotein lipase (LPL) causes the chylomicronemia ...LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for ... See full document
7
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
... resulting in an amino acid substitution of glutamic acid for glycine at position 188, is responsible for LPL deficiency in 21 of 88 LPL alleles assessed. This mutation alters an Ava II restriction site in exon 5 ... See full document
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Amino acid substitution (Ile194 Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands Support for a multicentric origin
... of lipoprotein lipase (LPL) deficiency have been facilitated by the availability of LPL gene probes and the recent characterization of gene mutations underlying human LPL ... See full document
8
A REVIEW: NATURAL ANTI-OBESITY DRUGS
... The plant Lagenaria siceraria belongs to the family curcubitaceae and is widely distributed throughout India. The plant contains phytosterols, terpenoids, sugars alkaloids, tannins, flavanoids, alkaloids, phenols, and ... See full document
6
Cell therapy could be a potential way to improve lipoprotein lipase deficiency
... in three steps. Firstly, fibroblasts were isolated from the LPL-deficient model mice and modified using induced pluripotent stem cell treatment technology through the introduction of 2–4 different transcription factors ... See full document
7
Potential of essential fatty acid deficiency with extremely low fat diet in lipoprotein lipase deficiency during pregnancy: A case report
... rich lipoprotein pool [18,19], and provides alimentary substrates for VLDL production ...Hepatic lipase activity is decreased as well and could explain the observa- tion of parallel TG-enrichment of LDL and ... See full document
9
Schickel, Ralph (2005): Identification of the nucleotide sequence of the lipoprotein lipase gene as well as its role in the development of hyperlipidemia and pancreatitis in the Miniature Schnauzer. Dissertation, LMU München: Tierärztliche Fakultät
... Die Lipoprotein Lipase (LPL) ist ein Enzym mit zentraler Bedeutung im ...das Lipoprotein Lipase Gen auf dessen potentielle Rolle bei der Entstehung von Pankreatitis und Hyperlipämie im ... See full document
77
Regulation of lipoprotein lipase in the diabetic rat
... Diabetes mellitus is associated with a reduction of lipoprotein lipase (LPL) activity and development of hypertriglyceridemia. In the current experiments the mechanisms involved in the regulation of LPL ... See full document
8
KINETIC STUDIES ON METABOLISM OF LIPOPROTEIN LIPASE
... Coefficient and exponential constants of lipoprotein lipase LPL activity curve in human subjects, dogs, and rabbits injected with heparin, 0.1 mg per kg of body weight K*.. Mean Acute he[r] ... See full document
8
Distribution of apolipoprotein(a) in the plasma from patients with lipoprotein lipase deficiency and with type III hyperlipoproteinemia No evidence for a triglyceride rich precursor of lipoprotein(a)
... low-density lipoprotein containing apolipoprotein (apo) B-100 and of the genetically polymorphic ...how lipoprotein(a) is assembled and whether there exists a precursor for ...from patients with ... See full document
9
Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non insulin dependent diabetes
... different mutations in exon 3 of the lipoprotein lipase (LPL) gene: a missense mutation, 75Arg-->Ser, inherited through the paternal line and a truncation, 73Tyr- ->Ter, through the ... See full document
10
Plasma Lipoprotein Lipase in Children with Idiopathic Nephrotic Syndrome
... Plasma Lipoprotein Lipase in Children with Idiopathic Nephrotic Syndrome.. The mechanism of hyperlipemia in the ne-.[r] ... See full document
6
Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children
... LPL deficiency. It is an adeno-associated virus type I (AAV1) gene therapy which delivers transgenic LPL to muscle in patients lacking the functional ... See full document
5
Role of lipoprotein lipase in the regulation of high density lipoprotein apolipoprotein metabolism Studies in normal and lipoprotein lipase inhibited monkeys
... catabolism were explored. A greater proportion of HDL apolipoprotein degradation occurred in the kidneys of hypertriglyceridemic than normal animals; the proportions in liver were the same in normal and LPL-inhibited ... See full document
12
Lipoprotein lipase and obesity
... Whether LPL directly or indirectly promotes or pro- tects against atherosclerosis remains controversial. Mi- senbock et al. reported that LPL +/− humans have atherogenic lipoproteins, especially in the postprandial state ... See full document
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