Search Results - "LEREN, P"
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1
Flavonoids regulate LDLR through different mechanisms tied to their specific structures
Published in Journal of lipid research (01-05-2024)“…Flavonoids, polyphenolic compounds found in plant-based diets, are associated with reduced risk of cardiovascular disease and longevity. These components are…”
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2
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay
Published in Journal of lipid research (01-01-2024)“…Excess cholesterol originating from nonhepatic tissues is transported within HDL particles to the liver for metabolism and excretion. Cholesterol efflux is…”
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3
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
Published in PloS one (01-12-2023)“…Background Cholesteryl ester transfer protein (CETP) transfers cholesteryl esters in plasma from high density lipoprotein (HDL) to very low density lipoprotein…”
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4
MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
Published in Atherosclerosis (01-09-2018)“…Induction of low-density lipoprotein receptor (LDLR) plays a significant role in reduction of plasma LDL-cholesterol (LDL-C) levels. Therefore, strategies that…”
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5
Body-mass index and cause-specific mortality in 900 000 adults: collaborative analyses of 57 prospective studies
Published in The Lancet (British edition) (2009)“…Summary Background The main associations of body-mass index (BMI) with overall and cause-specific mortality can best be assessed by long-term prospective…”
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6
Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
Published in European heart journal (01-05-2011)“…We evaluated if right ventricular (RV) mechanical dispersion by strain was related to ventricular arrhythmias (VT/VF) in patients with arrhythmogenic right…”
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7
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
Published in Clinical genetics (01-05-2004)“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene…”
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8
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Published in Human molecular genetics (01-05-2006)“…The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is involved in the post-transcriptional regulation of the low-density lipoprotein (LDL)…”
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9
Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
Published in Europace (London, England) (01-04-2014)“…Mutations in the Lamin A/C gene may cause atrioventricular block, supraventricular arrhythmias, ventricular arrhythmias (VA), and dilated cardiomyopathy. We…”
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10
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
Published in Biochemical journal (01-01-2014)“…PCSK9 (proprotein convertase subtilisin/kexin type 9) binds to the LDLR (low-density lipoprotein receptor) at the cell surface and disrupts recycling of the…”
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11
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
Published in Journal of clinical lipidology (01-11-2023)“…•Homozygosity for mutation Q384K in the APOB gene causes hypobetalipoproteinemia.•Mutation Q384K disrupts the structure of the large lipid transfer (LLT)…”
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12
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
Published in Heart rhythm (01-03-2011)“…Background Retrospective investigation of sudden unexplained death in the young (SUDY) reveals that a high proportion is due to inherited heart disease…”
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13
The unique role of proprotein convertase subtilisin/kexin 9 in cholesterol homeostasis
Published in Journal of internal medicine (01-12-2009)“… The LDL receptor (LDLR) plays an essential role in the regulation of plasma (LDL) cholesterol concentrations by virtue of its ability to clear plasma LDL…”
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14
The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review
Published in Frontiers in genetics (06-12-2022)“…Familial hypercholesterolemia (FH) is a common, inherited disease characterized by high levels of low-density lipoprotein Cholesterol (LDL-C) from birth. Any…”
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15
Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
Published in PloS one (18-02-2011)“…To study whether subjects with a molecular genetic diagnosis of familial hypercholesterolemia (FH) or familial defective apoB-100 (FDB) are being adequately…”
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16
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
Published in Journal of lipid research (01-06-2013)“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the LDL receptor (LDLR) at the cell surface and reroutes the internalized LDLR to intracellular…”
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17
Left ventricular mechanical dispersion by tissue Doppler imaging: a novel approach for identifying high-risk individuals with long QT syndrome
Published in European heart journal (01-02-2009)“…Aims The aim of this study was to investigate whether prolonged and dispersed myocardial contraction duration assessed by tissue Doppler imaging (TDI) may…”
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18
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
Published in Journal of lipid research (01-10-2011)“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) binds to the low density lipoprotein receptor (LDLR) at the cell surface and disrupts the normal…”
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19
Missense Mutations in the PCSK9 Gene Are Associated With Hypocholesterolemia and Possibly Increased Response to Statin Therapy
Published in Arteriosclerosis, thrombosis, and vascular biology (01-05-2006)“…OBJECTIVE—The proprotein convertase subtilisin/kexin type 9 (PCSK9) gene encodes a proprotein convertase that causes degradation of cell surface low-density…”
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20
Cascade genetic screening for familial hypercholesterolemia
Published in Clinical genetics (01-12-2004)“…Familial hypercholesterolemia (FH) is caused by a mutation in the low‐density lipoprotein receptor gene and is characterized by hypercholesterolemia,…”
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