|
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 |
GeneticVariation
|
disease |
UNIPROT |
Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.
|
30559189 |
2019 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Familial chylomicronemia syndrome (FCS) is a rare metabolic disorder caused by mutations in lipoprotein lipase (LPL) or genes required for LPL functionality and is characterized by hyperchylomicronemia that results in recurrent episodes of acute pancreatitis.
|
30318066 |
2019 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyceridemia, termed multifactorial chylomicronemia syndrome (MFCS); a deficiency in the enzyme lipoprotein lipase and some associated proteins, termed familial chylomicronemia syndrome (FCS); or familial partial lipodystrophy.
|
31035285 |
2019 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by a deficiency of lipoprotein lipase leading to extreme hypertriglyceridemia.
|
29784572 |
2019 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the recessive inheritance model, we identified two homozygous subjects with lipoprotein lipase (LPL) deficiency and one subject harboring compound heterozygous variants in both LPL and APOA5 genes (hyperchylomicronemia).
|
30389453 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Except for a heterozygous mutation in the promoter region of LPL, predicted to have no clinical significance, she had no further mutations in genes known to affect TG metabolism and to cause inherited type I hyperlipoproteinemia, such as APOA5, APOC2, GPIHBP1, or LMF1.
|
28916403 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
One-year results are reported of the first lipoprotein lipase deficiency (LPLD) patient treated with alipogene tiparvovec, which is indicated for the treatment of patients with genetically confirmed LPLD suffering from acute and recurrent pancreatitis attacks (PAs) despite dietary restrictions and expressing >5% of lipoprotein lipase (LPL) mass compared to a healthy control.
|
29641318 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
apoB = apolipoprotein B; apoC-III = apolipoprotein CIII; ASO = antisense oligonucleotide; FCS = familial chylomicronemia syndrome; HTG = hypertriglyceridemia; LPL = lipoprotein lipase; LPLD = lipoprotein lipase deficiency.
|
30183397 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We characterized at the molecular level three known and one novel LPL variants causing type I hyperlipoproteinemia showing that all these variants are pathogenic.
|
29288010 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in the 6 exon of the LPL gene is reportedly associated with LPL deficiency.
|
29479812 |
2018 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, targeted delivery of human lipoprotein lipase into striated muscle tissue identifies a potential therapeutic target for lipoprotein lipase deficiency.
|
29304082 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We have created an apoc2 knockout zebrafish model, which mimics the familial chylomicronemia syndrome (FCS) in human patients with a defect in the APOC2 or LPL gene.
|
28107429 |
2017 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway.
|
28927429 |
2017 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LPL Arg243His, identified in a patient with hyperchylomicronaemia, displays severely diminished activity for triolein when emulsified with Triton X-100.
|
28114790 |
2017 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Familial chylomicronemia is a recessive disorder that may be due to mutations in lipoprotein lipase (LPL) and in other proteins such as apolipoprotein C-II and apolipoprotein A-V (activators of LPL), GPIHBP1 (the molecular platform required for LPL activity on endothelial surface), and LMF1 (a factor required for intracellular formation of active LPL).
|
27578123 |
2017 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.
|
27055971 |
2016 |
|
Hyperlipoproteinemia Type I
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This study provides a conceptual framework for understanding intravascular lipolysis and GPIHBP1 and LPL mutations causing familial chylomicronemia.
|
26725083 |
2016 |
|
Hyperlipoproteinemia Type I
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency.
|
27573733 |
2016 |
|
Hyperlipoproteinemia Type I
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |