Search results for "Lipids"

showing 10 items of 2228 documents

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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Hepatocyte vitamin D receptor regulates lipid metabolism and mediates experimental diet-induced steatosis.

2015

Background & Aims The pathogenesis and progression of non-alcoholic fatty liver disease (NAFLD) is still incompletely understood. Several nuclear receptors play a role in liver lipid metabolism and can promote hepatosteatosis, but the possible role of vitamin D receptor (VDR) in NAFLD has not been investigated. Methods The expression of liver VDR was investigated in apolipoprotein E knockout ( apoE −/− ) mice on a high fat diet, in wild-type mice on methionine and choline deficient diet and in NAFLD patients with hepatosteatosis and non-alcoholic steatohepatitis. The relevance of VDR was assessed in apoE −/− mice by deletion of VDR or paricalcitol treatment and in human HepG2 cells by VDR t…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyCD36Retinoid X receptorDiet High-FatCalcitriol receptor03 medical and health sciencesMiceNon-alcoholic Fatty Liver DiseaseInternal medicinemedicineAnimalsHumansHepatologybiologyFatty liverLipid metabolismmedicine.diseaseLipid MetabolismMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinologyLiverbiology.proteinHepatocytesReceptors Calcitriollipids (amino acids peptides and proteins)SteatosisSteatohepatitisJournal of hepatology
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Myeloid-Specific Deletion of Diacylglycerol Lipase α Inhibits Atherogenesis in ApoE-Deficient Mice

2016

BACKGROUND:The endocannabinoid 2-arachidonoylglycerol (2-AG) is a known modulator of inflammation. Despite its high concentration in vascular tissue, the role of 2-AG in atherogenesis has not yet been examined. METHODS:ApoE-deficient mice were sublethally irradiated and reconstituted with bone marrow from mice with a myeloid-specific knockout of the 2-AG synthesising enzyme diacylglycerol lipase α (Dagla) or control bone marrow with an intact 2-AG biosynthesis. After a cholesterol-rich diet for 8 weeks, plaque size and plaque morphology were examined in chimeric mice. Circulating inflammatory cells were assessed by flow cytometry. Aortic tissue and plasma levels of endocannabinoids were mea…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyMyeloidDiacylglycerol lipaselcsh:MedicineInflammationBlood Pressure030204 cardiovascular system & hematologyReceptor Cannabinoid CB203 medical and health sciencesMice0302 clinical medicineApolipoproteins EHeart RateSuperoxidesInternal medicinemedicineAnimalsMyeloid Cellslcsh:ScienceReceptorVascular tissueMice KnockoutLipoprotein lipaseMultidisciplinarybiologyMacrophageslcsh:RAtherosclerosisEndocannabinoid systemPlaque AtheroscleroticLipoprotein Lipase030104 developmental biologymedicine.anatomical_structureEndocrinologyBiochemistrybiology.proteinlcsh:Qlipids (amino acids peptides and proteins)medicine.symptomResearch ArticlePLoS ONE
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Cholesterol trafficking and raft-like membrane domain composition mediate scavenger receptor class B type 1-dependent lipid sensing in intestinal epi…

2018

IF 5.547; International audience; Scavenger receptor Class B type 1 (SR-B1) is a lipid transporter and sensor. In intestinal epithelial cells, SR-B1-dependent lipid sensing is associated with SR-B1 recruitment in raft-like/ detergent-resistant membrane domains and interaction of its C-terminal transmembrane domain with plasma membrane cholesterol. To clarify the initiating events occurring during lipid sensing by SR-B1, we analyzed cholesterol trafficking and raft-like domain composition in intestinal epithelial cells expressing wild-type SR-B1 or the mutated form SR-B1-Q445A, defective in membrane cholesterol binding and signal initiation. These features of SR-B1 were found to influence bo…

0301 basic medicineArticlescavenger receptor03 medical and health scienceschemistry.chemical_compoundMembrane MicrodomainsLipid droplet[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyScavenger receptorIntestinal MucosaMolecular BiologyLipid raft[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyCholesterolcholesterolEpithelial CellsCell BiologyLipid DropletsScavenger Receptors Class BSphingolipidCell biologySphingomyelinslipid raftTransmembrane domain030104 developmental biologychemistrylipid traffickinglipids (amino acids peptides and proteins)sphingolipidSignal transductionCaco-2 CellsLysophospholipidsSphingomyelinSignal Transduction
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On-demand autophagic network adaptations upon limited lipid availability

2020

The de novo synthesis of autophagic vesicles is strongly dependent on sufficient lipid supply. Recently, the RAB GTPase RAB18 was shown to affect autophagy by mediating fatty acid release from lipid droplets, which are lipid sources for autophagosome formation. The stable loss of RAB18 interfered with fatty acid release from the lipid reservoirs and provoked autophagy network adaptations aiming to maintain autophagic activity under lipid limiting conditions.

0301 basic medicineAutophagy-Related ProteinsGTPaseBiologyModels Biological03 medical and health sciencesLipid dropletAutophagyHumansMolecular Biologychemistry.chemical_classification030102 biochemistry & molecular biologyVesicleAutophagyFatty acidLipid DropletsCell BiologyAdaptation PhysiologicalLipidsCell biologyDe novo synthesis030104 developmental biologychemistryrab GTP-Binding Proteinslipids (amino acids peptides and proteins)RabCommentary and ViewsRAB18Autophagy
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Virus found in a boreal lake links ssDNA and dsDNA viruses.

2017

Viruses have impacted the biosphere in numerous ways since the dawn of life. However, the evolution, genetic, structural, and taxonomic diversity of viruses remain poorly understood, in part because sparse sampling of the virosphere has concentrated mostly on exploring the abundance and diversity of dsDNA viruses. Furthermore, viral genomes are highly diverse, and using only the current sequence-based methods for classifying viruses and studying their phylogeny is complicated. Here we describe a virus, FLiP (Flavobacterium-infecting, lipid-containing phage), with a circular ssDNA genome and an internal lipid membrane enclosed in the icosahedral capsid. The 9,174-nt-long genome showed limite…

0301 basic medicineBACTERIALviruksetProtein ConformationviruseslipiditGenomechemistry.chemical_compoundProtein structureBINDINGVIRAL UNIVERSE1183 Plant biology microbiology virologyGeneticsMultidisciplinaryCRYOELECTRON MICROSCOPYBiological Sciencesboreaalinen vyöhykeCapsidViral evolutionCAPSID PROTEINLineage (genetic)030106 microbiologyGENOMESDNA Single-Strandedcryo-electron microscopyGenome ViralBiologyPROTEIN STRUCTURESjärvetFlavobacteriumVirusbakteriofagitlipids03 medical and health sciencesCapsidPhylogeneticsBacteriophage PRD1structuregenometa1182DNA VirusesDNAEVOLUTIONLakes030104 developmental biologychemistryperimäCapsid ProteinsCOMMUNITIESDNAProceedings of the National Academy of Sciences of the United States of America
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Simultaneous lipidomic and transcriptomic profiling in mouse brain punches of acute epileptic seizure model compared to controls

2018

In this study, we report the development of a dual extraction protocol for RNA and lipids, including phospholipids, endocannabinoids, and arachidonic acid, at high spatial resolution, e.g., brain punches obtained from whole frozen brains corresponding to four brain subregions: dorsal hippocampus, ventral hippocampus, basolateral amygdala, and hypothalamus. This extraction method combined with LC/multiple reaction monitoring for lipid quantification and quantitative PCR for RNA investigation allows lipidomic and transcriptomic profiling from submilligram amounts of tissue, thus benefiting the time and animal costs for analysis and the data reliability due to prevention of biological variabil…

0301 basic medicineBiochemistryTranscriptomechemistry.chemical_compoundEpilepsyMice0302 clinical medicineEndocrinologyTEMPORAL-LOBE EPILEPSYResearch Articlesmass spectrometrymessenger ribonucleic acidKainic AcidBrainNEUROLOGICAL DISORDERSQUANTITATIVE-ANALYSISEndocannabinoid systemLipidsCell biologyReal-time polymerase chain reactionmedicine.anatomical_structureAcute DiseaseArachidonic acidEpileptic seizuremedicine.symptomACID-INDUCED SEIZURESQD415-436BiologyMEMBRANE PHOSPHOLIPIDSENDOCANNABINOID SYSTEM03 medical and health sciencesCYTOPLASMIC PHOSPHOLIPASE A(2)SeizuresmedicineAnimalsendocannabinoidsphospholipidsGene Expression ProfilingRNACell BiologyMASS-SPECTROMETRYmedicine.diseaseDisease Models Animal030104 developmental biologychemistrynervous systemepilepsyLYSOPHOSPHATIDIC ACID030217 neurology & neurosurgeryTERT-BUTYL ETHERBasolateral amygdala
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Cardiolipin synthesis in brown and beige fat mitochondria is essential for systemic energy homeostasis

2018

Summary Activation of energy expenditure in thermogenic fat is a promising strategy to improve metabolic health, yet the dynamic processes that evoke this response are poorly understood. Here we show that synthesis of the mitochondrial phospholipid cardiolipin is indispensable for stimulating and sustaining thermogenic fat function. Cardiolipin biosynthesis is robustly induced in brown and beige adipose upon cold exposure. Mimicking this response through overexpression of cardiolipin synthase (Crls1) enhances energy consumption in mouse and human adipocytes. Crls1 deficiency in thermogenic adipocytes diminishes inducible mitochondrial uncoupling and elicits a nuclear transcriptional respons…

0301 basic medicineBiologiaBioenergeticsChop-10 ; Crls1 ; Beige Adipose ; Brown Adipose ; Cardiolipin ; Insulin Resistance ; Lipid Metabolism ; Mitochondria ; Phospholipids ; ThermogenesisPhysiologyGlucose uptakeAdipose tissueTransferases (Other Substituted Phosphate Groups)MitochondrionEnergy homeostasischemistry.chemical_compoundMice0302 clinical medicineAdipose Tissue Browninsulin resistancelipid metabolismCardiolipinAdipocytesCells CulturedThermogenesisthermogenesisCell biologyMitochondriamitochondriaCHOP-10lipids (amino acids peptides and proteins)BioquímicaCardiolipinsbeige adiposeArticle03 medical and health sciencesInsulin resistanceCRLS1medicineAnimalsHumansMolecular Biologyphospholipidsbrown adiposeMembrane ProteinsCell BiologyAdipose Tissue Beigemedicine.diseaseMice Inbred C57BL030104 developmental biologychemistrycardiolipinEnergy MetabolismThermogenesis030217 neurology & neurosurgery
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Cell type specific impact of cannabinoid receptor signaling in somatosensory barrel map formation in mice

2019

Endocannabinoids and their receptors are highly abundant in the developing cerebral cortex and play major roles in early developmental processes, for example, neuronal proliferation, migration, and axonal guidance as well as postnatal plasticity. To investigate the role of the cannabinoid type 1 receptor (CB1) in the formation of sensory maps in the cerebral cortex, the topographic representation of the whiskers in the primary somatosensory cortex (barrel field) of adult mice with different cell type specific genetic deletion of CB1 was studied. A constitutive absence of CB1 (CB1-KO) significantly decreased the total area of the somatosensory cortical map, affecting barrel, and septal areas…

0301 basic medicineBiologySomatosensory systemMice03 medical and health sciencesGlutamatergicOrgan Culture Techniques0302 clinical medicineReceptor Cannabinoid CB1medicineAnimalsMice KnockoutBrain Mappingmusculoskeletal neural and ocular physiologyGeneral Neurosciencefood and beveragesSomatosensory CortexBarrel cortexMice Inbred C57BL030104 developmental biologyCortical mapmedicine.anatomical_structurenervous systemCerebral cortexSensory mapsForebrainGABAergiclipids (amino acids peptides and proteins)Neurosciencepsychological phenomena and processes030217 neurology & neurosurgerySignal TransductionJournal of Comparative Neurology
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Unsaturated Oral Fat Load Test Improves Glycemia, Insulinemia and Oxidative Stress Status in Nondiabetic Subjects with Abdominal Obesity.

2016

Aims To evaluate the changes in glycemia, insulinemia, and oxidative stress markers during an oral fat load test in nondiabetic subjects with abdominal obesity and to analyze the association between postprandial oxidative stress markers and postprandial glucose and insulin responses. Methods We included 20 subjects with abdominal obesity (waist circumference > 102 cm for men and > 88 cm for women) and 20 healthy lean controls (waist circumference < 102 cm for men and < 88 cm for women). After 12 hours of fasting we performed a standardized fat load test (0–8 hours) with supracal® (50 g/m2). We determined metabolic parameters, oxidized and reduced glutathione, and malondialdehyde. Results In…

0301 basic medicineBlood GlucoseMalePhysiologymedicine.medical_treatmentlcsh:MedicineBiochemistryFatschemistry.chemical_compound0302 clinical medicineEndocrinologyMalondialdehydeMedicine and Health SciencesInsulinlcsh:ScienceAbdominal obesityMultidisciplinaryOrganic CompoundsMonosaccharidesMiddle AgedMalondialdehydePostprandial PeriodGlutathioneLipidsChemistryPostprandialCholesterolPhysiological ParametersObesity AbdominalPhysical SciencesFemalemedicine.symptomResearch ArticleAdultmedicine.medical_specialtyWaistAdolescentLipoproteinsCarbohydrates030209 endocrinology & metabolism03 medical and health sciencesYoung AdultInsulin resistanceInternal medicinemedicineHumansObesityAgedDiabetic EndocrinologyEndocrine Physiologybusiness.industryInsulinUnsaturated fatlcsh:RBody WeightOrganic ChemistryChemical CompoundsBiology and Life SciencesProteinsCell Biologymedicine.diseaseObesityHormonesFats UnsaturatedOxidative Stress030104 developmental biologyEndocrinologyGlucosechemistryCase-Control Studieslcsh:QInsulin ResistancebusinessPloS one
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