|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results demonstrate that LPL gene plays a major role in extreme HTG associated with hyperchylomicronemia, although the condition may not cause severe atherosclerosis.
|
29153744 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The primary LPL deficiency was diagnosed on the basis of the findings that no LPL activity was detected in post-heparin plasma (PHP) and that the immunoreactive LPL mass in PHP was less than 2% of the control level.
|
11099402 |
2000 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We conclude that primary LPL deficiency in the proband was caused by a lack of enzyme synthesis due to the absence of LPL mRNA resulting from one base deletion of G in exon 5, and that heterozygous LPLArita deficient subjects show almost half value of control LPL mass.
|
1737848 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, LPL FCS patients have lower postheparin LPL activity and a trend toward higher TGs, whereas low-density lipoprotein cholesterol was higher in non-LPL-FCS patients.
|
29748148 |
2019 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Extreme hypertriglyceridaemia requires strict dietary measures, and patients with a diagnosis of genetic lipoprotein lipase deficiency might benefit from LPL gene replacement therapy.
|
24060958 |
2013 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In children and adults a genetic cause may underlie HTG which can be expressed as CMs a severe clinical picture known as Familial Hyperchylomicronemia due to lipoprotein lipase (LPL) or apolipoprotein (apo) CII deficiencies.
|
25936310 |
2015 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest that assay of LPL may be helpful for detection of heterozygotes in familial LPL deficiency.
|
3983953 |
1985 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A review of cases of LPL deficiency with molecular study of the LPL gene showed a total number of 221 reported mutations involved in this disease.
|
11334614 |
2001 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with mutations on both alleles of the lipoprotein lipase gene resulting in complete lipoprotein lipase deficiency exhibit the chylomicronemia syndrome with severe hypertriglyceridemia and increased risk of pancreatitis and possibly of ischemic heart disease.
|
9323055 |
1997 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gene therapy to deliver and express a corrective lipoprotein lipase (LPL) gene may improve the lipid profile and reduce the morbidity and potential atherogenic risk from hypertriglyceridemia and dyslipoproteinemia in patients with complete or partial LPL deficiency.
|
9017424 |
1997 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
The biochemical and clinical aspects of these disorders, lipoprotein lipase deficiency (familial type I hyperlipoproteinaemia), hepatic triglyceride lipase deficiency and apo-CII deficiency are discussed.
|
3141684 |
1988 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the interrelationships of LPL structure and its function, the molecular etiology of abnormal LPL in humans, and the clinical and therapeutic aspects of LPL deficiency.
|
8843465 |
1996 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lipoprotein lipase (LPL) gene, leading to partial or total inactivation of the enzyme, result in a hereditary clinical syndrome called familial LPL deficiency.
|
1511985 |
1992 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In DNA from a male patient of German and Polish ancestry who has lipoprotein lipase deficiency, sequencing of all nine exons and intron-exon boundaries corresponding to the coding region of the lipoprotein lipase gene detected a C----T transition leading to the substitution of a stop signal for the codon that normally determines a glutamine at position 106 of the mature enzyme.
|
2349938 |
1990 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Two missense mutations in exon 6 of the LPL gene were identified on separate alleles in a Dutch patient with lipoprotein lipase (LPL) deficiency.
|
8973094 |
1996 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Effect of maternal triglycerides and free fatty acids on placental LPL in cultured primary trophoblast cells and in a case of maternal LPL deficiency.
|
17299085 |
2007 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity for LPL mutations is an important underlying mechanism for LPL deficiency.
|
11983347 |
2002 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results indicated that the compound mutation was associated with hypertriglyceridemia due to both LPL deficiency and defective LPL function.
|
26892137 |
2016 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).
|
8288243 |
1993 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
He was genetically diagnosed as LPL deficiency (homozygous for LPL(Arita)) with no LPL mass or activity in postheparin plasma.
|
16174715 |
2005 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In Eastern Québec, two major lipoprotein lipase (LPL) gene mutations, P207L and G188E, lead to complete LPL deficiency in homozygote subjects and contribute to elevated predisposition to hypertriglyceridemia in heterozygotes.
|
16630553 |
2006 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Such a structure would aid in understanding mutations in LPL that cause familial LPL deficiency in patients and help in the development of therapeutic strategies to target LPL.
|
29303250 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase.
|
17542893 |
2007 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.
|
27578112 |
2017 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The measurement of LPL activity and mass allows identification of the heterozygote state for LPL deficiency, which is characterized by variable expressions of hyperlipidemia and reduced HDL cholesterol.
|
2719595 |
1989 |