|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We classified 125 rare LPL mutations in 33 subjects thought to have LPL deficiency and in 314 subjects selected for very SHTG.
|
27055971 |
2016 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
|
25966443 |
2015 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
GPIHBP1 missense mutations that interfere with LPL binding cause familial chylomicronemia.
|
25387803 |
2015 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LPL gene are the most frequent cause of monogenic HTG (familial chylomicronemia) with recessive transmission.
|
25966443 |
2015 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alipogene tiparvovec (Glybera®; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with familial lipoprotein lipase (LPL) deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions.
|
25559420 |
2015 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene.
|
24589565 |
2014 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Systemic antibody and T cell responses against AAV1 and LPL(S447X), as well as local cellular immune responses in the injected muscle, were investigated in five LPLD subjects.
|
24299335 |
2014 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function LPL variants leading to familial chylomicronemia were found in 13 patients, accounting for a significant proportion of the LPL-deficient patients predicted to live in Spain.
|
24291057 |
2014 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
The familial chylomicronemia syndrome is a genetic disorder characterized by severe hypertriglyceridemia and recurrent pancreatitis due to a deficiency in lipoprotein lipase (LPL).
|
25470695 |
2014 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Determination of lipoprotein lipase (LPL) activity is important for hyperchylomicronemia diagnosis, but remains both unreliable and cumbersome with current methods.
|
24788417 |
2014 |
|
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 |
We describe the 2-year follow-up of an open-label trial (CT-AMT-011-01) of AAV1-LPL(S447X) gene therapy for lipoprotein lipase (LPL) deficiency (LPLD), an orphan disease associated with chylomicronemia, severe hypertriglyceridemia, metabolic complications and potentially life-threatening pancreatitis.
|
22717743 |
2013 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.
|
23761384 |
2013 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This is the first reported case of extreme gestational hyperlipidemia with a partial LPL deficiency in the absence of an LPL gene mutation and the apolipoprotein E 3/2 genotype.
|
24009459 |
2013 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
In other mice with LPL deficiency rescued from neonatal lethality by somatic gene transfer wherein LPL in the brain remains absent, altered cognition ensues.
|
22540257 |
2012 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied 3 subjects with familial LPL deficiency; 14 subjects heterozygous for the LPL gene mutations Gly188Glu, Trp64Stop, and Ile194Thr; and 10 control subjects.
|
22095987 |
2012 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Apolipoprotein B-100-containing lipoprotein metabolism in subjects with lipoprotein lipase gene mutations.
|
22095987 |
2012 |
|
Hyperlipoproteinemia Type I
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Loss of Col18 reduces plasma levels of Lpl enzyme and activity, which results in mild fasting hypertriglyceridemia and diet-induced hyperchylomicronemia.
|
21085708 |
2010 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy is developed to prevent complications and decrease the clinical morbidity of lipoprotein lipase deficiency (LPLD).
|
20427244 |
2010 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Postheparin LPL activity level was reduced by about 50% in Q97X heterozygotes and more than 90% in the Q97X homozygote, but was normal in the L242P patient after resolution of hyperchylomicronemia.
|
19447388 |
2009 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In summary, we describe a case of familial LPL deficiency caused by compound heterozygosity for known (G188E) and novel (W394X) LPL gene mutations.
|
18275685 |
2008 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).
|
17717288 |
2007 |