Search results for "ABCA1"

showing 10 items of 20 documents

Knock-down of the oxysterol receptor LXRα impairs cholesterol efflux in human primary macrophages: lack of compensation by LXRβ activation.

2012

Liver X Receptors (LXRs) α and β are oxysterol-activated nuclear receptors involved in the control of lipid metabolism and inflammation. Pharmacological activation of LXR is promising in the treatment of atherosclerosis since it can promote cholesterol efflux from macrophages and prevent foam cell formation. However, the development of LXR agonists has been limited by undesirable side-effects such as hepatic steatosis mediated by LXRα activation. Therefore, it has been proposed that targeting LXRα activators to extrahepatic tissues or using LXRβ-specific activators could be used as alternative strategies. It is not clear whether these molecules will retain the full atheroprotective potentia…

Apolipoprotein Emedicine.medical_specialtyBenzylaminesOxysterolHydrocarbons FluorinatedPrimary Cell CultureBiochemistryBenzoatesApolipoproteins EInternal medicinemedicineHumansRNA Small InterferingReceptorLiver X receptorCells CulturedFoam cellLiver X ReceptorsPharmacologySulfonamidesbiologyApolipoprotein A-IMacrophagesOrphan Nuclear ReceptorsLipoproteins HDL2Cell biologyEndocrinologyCholesterolABCG1Nuclear receptorABCA1Gene Knockdown Techniquesbiology.proteinlipids (amino acids peptides and proteins)Biochemical pharmacology
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Biological activities of Schottenol and Spinasterol, two natural phytosterols present in argan oil and in cactus pear seed oil, on murine miroglial B…

2014

International audience; The objective of this study was to evaluate the biological activities of the major phytosterols present in argan oil (AO) and in cactus seed oil (CSO) in BV2 microglial cells. Accordingly, we first determined the sterol composition of AO and CSO, showing the presence of Schottenol and Spinasterol as major sterols in AO. While in CSO, in addition to these two sterols, we found mainly another sterol, the Sitosterol. The chemical synthesis of Schottenol and Spinasterol was performed. Our results showed that these two phytosterols, as well as sterol extracts from AO or CSO, are not toxic to microglial BV2 cells. However, treatments by these phytosterols impact the mitoch…

Argan oilABCA1Biochemistrychemistry.chemical_compoundMice0302 clinical medicineSchottenolBV2 cellspolycyclic compoundsCactus oilATP Binding Cassette Transporter Subfamily G Member 1Liver X ReceptorsMembrane Potential Mitochondrial0303 health sciencesbiologyOpuntiafood and beveragesPhytosterolsOrphan Nuclear ReceptorsSterolsBiochemistryABCG1030220 oncology & carcinogenesisSeeds[PHYS.COND.CM-MS]Physics [physics]/Condensed Matter [cond-mat]/Materials Science [cond-mat.mtrl-sci]lipids (amino acids peptides and proteins)LXRMicrogliaATP Binding Cassette Transporter 1food.ingredientABCG1LipoproteinsBiophysicsStigmasterol[ PHYS.COND.CM-MS ] Physics [physics]/Condensed Matter [cond-mat]/Materials Science [cond-mat.mtrl-sci]Ficus indicaCell Line03 medical and health sciencesfoodAnimalsPlant OilsLiver X receptorMolecular BiologySpinasterol030304 developmental biologyCholesterolCell BiologySitosterolsSterolSpinasterolchemistryNuclear receptorGene Expression RegulationArgan oilABCA1biology.proteinATP-Binding Cassette Transporters
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Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.

2020

Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)—a human ABCA12 paralog—contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Osy function provokes rapid desiccation. Osy is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Osy activity is reduced. …

Cancer ResearchLife CyclesEmbryologyMutantCell MembranesATP-binding cassette transporterQH426-470Biochemistry0302 clinical medicineLarvaeAnimal WingsLoss of Function MutationMedicine and Health SciencesDrosophila ProteinsAnimal AnatomyGenetics (clinical)Barrier functionSkin0303 health sciencesbiologyDrosophila MelanogasterEukaryotaAnimal ModelsHarlequin IchthyosisLipidsCell biologyInsectsExperimental Organism SystemsEmbryology and OrganogenesisDrosophilaDrosophila melanogasterCellular Structures and OrganellesAnatomyIntegumentary SystemEmbryologie et organogenèseDrosophila ProteinAutre (Sciences du Vivant)Research Article[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]ArthropodaResearch and Analysis Methods03 medical and health sciencesModel OrganismsExtracellularGeneticsAnimalsABCA12DesiccationMolecular BiologyEcology Evolution Behavior and Systematics030304 developmental biologyEmbryosfungiOrganismsBiology and Life SciencesCell Biologybiology.organism_classificationInvertebrates[SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesisbiology.proteinAnimal StudiesATP-Binding Cassette TransportersEpidermisZoology030217 neurology & neurosurgeryIchthyosis LamellarDevelopmental BiologyPLoS Genetics
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ABC A-subfamily transporters: Structure, function and disease

2006

AbstractABC transporters constitute a family of evolutionarily highly conserved multispan proteins that mediate the translocation of defined substrates across membrane barriers. Evidence has accumulated during the past years to suggest that a subgroup of 12 structurally related “full-size” transporters, referred to as ABC A-subfamily transporters, mediates the transport of a variety of physiologic lipid compounds. The emerging importance of ABC A-transporters in human disease is reflected by the fact that as yet four members of this protein family (ABCA1, ABCA3, ABCR/ABCA4, ABCA12) have been causatively linked to completely unrelated groups of monogenetic disorders including familial high-d…

Candidate geneSubfamilyProtein familyATP-binding cassette transporterDiseaseABCA3RetinaEvolution MolecularSurfactantAnimalsHumansDiseaseABCA12Molecular BiologyTangier DiseaseGeneticsbiologyIchthyosisLipidAtherosclerosisABCA1biology.proteinMolecular MedicineATP-Binding Cassette TransportersDisease SusceptibilityABC transporterBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Cholesterol and Amyloid-β: Evidence for a Cross-Talk between Astrocytes and Neuronal Cells.

2011

Accumulating data supports the concept that alterations of cholesterol metabolism might influence the development of Alzheimer's disease (AD), a neurodegenerative disorder characterized by progressive accumulation of amyloid-β (Aβ) peptides in the brain. Changes in the neuronal production of Aβ have been described as a function of cholesterol levels, thus suggesting a causal link between cholesterol homeostasis dysregulation and AD pathogenesis. Under physiological conditions, cholesterol uptake in the brain is efficiently prevented by the blood-brain barrier, and mature neurons are thought to rely on glial cells for their cholesterol supply. In the present study, we tested the hypothesis t…

Genetically modified mouseBlotting WesternEnzyme-Linked Immunosorbent AssayMice TransgenicCell LinePathogenesisMicechemistry.chemical_compoundAlzheimer DiseasemedicineAnimalsHomeostasisHumansBrain ChemistryNeuronsAmyloid beta-PeptidesbiologyCholesterolGeneral NeuroscienceTransporterReceptor Cross-TalkGeneral Medicinemedicine.diseaseCoculture TechniquesPsychiatry and Mental healthClinical PsychologyCholesterolATP Binding Cassette Transporter 1chemistryAstrocytesABCA1biology.proteinATP-Binding Cassette Transporterslipids (amino acids peptides and proteins)Geriatrics and GerontologyAlzheimer's diseaseNeuroscienceHomeostasisATP Binding Cassette Transporter 1
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NPC1L1 and ABCG5/8 induction explain synergistic fecal cholesterol excretion in ob/ob mice co-treated with PPAR-α and LXR agonists

2020

Reverse cholesterol transport (RCT) and transintestinal cholesterol efflux (TICE) are two important pathways for body cholesterol elimination. We studied these pathways in an animal model of diabetes and obesity (ob/ob) where HDL function is compromised as a result of hyperglycemia, low-grade inflammation and oxidative stress. Co-treatment of ob/ob mice with PPAR-α (fenofibrate) and LXR (T0901317) agonists increased fecal cholesterol by 12-fold; PPAR-α and LXR agonists individually showed 2.6- and 4.0-fold fecal cholesterol excretion, respectively. We investigated the mechanism of synergistic efficacy of PPAR-α and LXR agonists in fecal cholesterol excretion. LXR agonist and the combination…

Male0301 basic medicinemedicine.medical_specialtyHydrocarbons FluorinatedHDLLipoproteinsClinical BiochemistryMice ObeseABCA1NPC1L1Cholesterol 7 alpha-hydroxylaseExcretionFecesMiceob/ob03 medical and health scienceschemistry.chemical_compound0302 clinical medicineFenofibrateInternal medicinemedicineAnimalsPPAR alphaTICEATP Binding Cassette Transporter Subfamily G Member 5Liver X receptorMolecular BiologyLiver X ReceptorsSulfonamidesFenofibratebiologyChemistryCholesterolATP Binding Cassette Transporter Subfamily G Member 8Reverse cholesterol transportMembrane Transport ProteinsDrug SynergismCell BiologyGeneral MedicineCholesterol030104 developmental biologyEndocrinology030220 oncology & carcinogenesisABCA1ABCG5/G8biology.proteinIntestinal cholesterol absorptionlipids (amino acids peptides and proteins)medicine.drugMolecular and Cellular Biochemistry
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Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis

2013

Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…

Pathologymedicine.medical_specialtyCongenital ichthyosiform erythrodermaDNA Mutational AnalysisBiologyModels BiologicalPolymorphism Single NucleotideUltrasonography PrenatalExonFatal OutcomePregnancyCongenital ichthyosisGeneticsmedicineHumansABCA12Sequence DeletionGeneticsInfant NewbornEctropionGeneral MedicineLamellar ichthyosisHarlequin Ichthyosismedicine.diseaseEclabiumbiology.proteinATP-Binding Cassette TransportersFemalemedicine.symptomIchthyosis LamellarGene
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ABC A-subclass proteins: Gatekeepers of cellular phospho- and sphingolipid transport

2007

During the past years, available evidence suggests that members of a novel family of structurally highly related multispan proteins, designated ABC A-subclass transporters, exert critical functions in the control of cellular lipid transport processes. Loss-of-function scenarios, thus far, have revealed pivotal roles of individual ABC A-transporters in specialized lipid secretory pathways of the cell including HDL biogenesis (ABCA1), lung surfactant production (ABCA3), retinal integrity (ABCA4/ABCR) and skin lipid barrier formation (ABCA12). Although the specific transporter activities of many members of this novel protein family have not yet been established in detail, available evidence in…

SphingolipidsbiologyCellBiological TransportPulmonary SurfactantsTransporterABCA3SphingolipidCell biologymedicine.anatomical_structureBiochemistryABCA1biology.proteinmedicineAnimalsHumansATP-Binding Cassette Transporterslipids (amino acids peptides and proteins)ABCA12Lipoproteins HDLPhospholipidsBiogenesisFunction (biology)Frontiers in Bioscience
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Dysfunction of Torr causes a Harlequin-type ichthyosis-like phenotype in Drosophila melanogaster

2019

AbstractPrevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Torr - a human ABCA12 paralog - contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Torr function provokes rapid desiccation. Torr is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Torr activity is redu…

biologyChemistryfungiMutantATP-binding cassette transporterHarlequin Ichthyosisbiology.organism_classificationCell biologyTorrbiology.proteinExtracellularDrosophila melanogasterABCA12Barrier function
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Adherence to the mediterranean diet modulates the association between the abca1 gene, plasma lipids and diabetes in a high-risk population

2014

medicine.medical_specialtyeducation.field_of_studyMediterranean dietbusiness.industryPopulationmedicine.diseaseEndocrinologyInternal medicineDiabetes mellitusPlasma lipidsmedicineABCA1 GeneCardiology and Cardiovascular MedicineeducationbusinessAtherosclerosis
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