Search results for " lip"

showing 10 items of 1180 documents

Large-scale screening of lipase acid deficiency in at risk population

2021

International audience; BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). METHODS: This study aimed to investigate a cohort of at-risk patients (4174) presenting with clinical or biol…

0301 basic medicinemedicine.medical_specialty[SDV]Life Sciences [q-bio]Clinical BiochemistryAcid lipase deficiencyDBSSpleenDried blood spotLysosomal acid lipase deficiencyBiochemistryGastroenterologyCESDCholesterol ester storage disease03 medical and health sciences0302 clinical medicinePregnancyLysosomeInternal medicinemedicineHumansAllelebusiness.industryBiochemistry (medical)Infant NewbornWolman DiseaseLipaseGeneral MedicineCholesterol ester storage diseaseLALSterol Esterasemedicine.diseasePhenotype3. Good healthDried blood spot[SDV] Life Sciences [q-bio]030104 developmental biologymedicine.anatomical_structureWolman030220 oncology & carcinogenesisCohortScreeningFemaleCholesterol Estersbusiness
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Aggravated Atherosclerosis and Vascular Inflammation With Reduced Kidney Function Depend on Interleukin-17 Receptor A and Are Normalized by Inhibitio…

2018

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0301 basic medicinemedicine.medical_specialtylcsh:Diseases of the circulatory (Cardiovascular) systemIl17ra interleukin-17 receptor A (gene name)medicine.medical_treatmentInterleukin-17 receptormacrophage030204 cardiovascular system & hematologyLesionPRECLINICAL RESEARCH03 medical and health sciencesPCR polymerase chain reaction0302 clinical medicineInternal medicinemedicineMacrophageReceptorbusiness.industryCKD chronic kidney diseaseLDLr low-density lipoprotein receptorIL interleukinBlockadeEndothelial stem cell030104 developmental biologyEndocrinologyCytokinelcsh:RC666-701Interleukin 17medicine.symptomatherosclerosisCardiology and Cardiovascular Medicinebusinessinterleukin 17chronic kidney diseaseJACC: Basic to Translational Science
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Roles of NGAL and MMP-9 in the tumor microenvironment and sensitivity to targeted therapy.

2016

Various, diverse molecules contribute to the tumor microenvironment and influence invasion and metastasis. In this review, the roles of neutrophil gelatinase-associated lipocalin (NGAL) and matrix metalloproteinase-9 (MMP-9) in the tumor microenvironment and sensitivity to therapy will be discussed. The lipocalin family of proteins has many important functions. For example when NGAL forms a complex with MMP-9 it increases its stability which is important in cancer metastasis. Small hydrophobic molecules are bound by NGAL which can alter their entry into and efflux from cells. Iron transport and storage are also influenced by NGAL activity. Regulation of iron levels is important for survival…

0301 basic medicinemedicine.medical_treatmentDrug resistance; Iron transport; Lcn2; Lipocalins; MMP-9; NGAL; SiderocalinsAcute-Phase ProteinLipocalinLipocalinMetastasisTargeted therapyAntineoplastic Agent0302 clinical medicineNeoplasmsTumor MicroenvironmentNeoplasm MetastasisNGALProto-Oncogene ProteinMedicine (all)SiderocalinsLipocalinsNeoplasm MetastasiMatrix Metalloproteinase 9030220 oncology & carcinogenesismedicine.symptomSignal transductionMMP-9HumanProtein BindingSignal TransductionSiderocalinAntineoplastic AgentsInflammationBiologyModels Biological03 medical and health sciencesLcn2Lipocalin-2Proto-Oncogene ProteinsmedicineHumansIron transportMolecular BiologyTumor microenvironmentInnate immune systemCell Biologymedicine.disease030104 developmental biologyDrug resistanceCancer cellImmunologyCancer researchNeoplasmAcute-Phase Proteins
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Mobility of a Mononucleotide within a Lipid Matrix: A Neutron Scattering Study

2017

International audience; An essential question in studies on the origins of life is how nucleic acids were first synthesized and then incorporated into compartments about 4 billion years ago. A recent discovery is that guided polymerization within organizing matrices could promote a non-enzymatic condensation reaction allowing the formation of RNA-like polymers, followed by encapsulation in lipid membranes. Here, we used neutron scattering and deuterium labelling to investigate 5'-adenosine monophosphate (AMP) molecules captured in a multilamellar phospholipid matrix. The aim of the research was to determine and compare how mononucleotides are captured and differently organized within matric…

0301 basic medicinemultilamellar lipid matrix[PHYS.PHYS.PHYS-BIO-PH]Physics [physics]/Physics [physics]/Biological Physics [physics.bio-ph]neutron scattering; multilamellar lipid matrix; mononucleotide mobility; hydrationPhospholipidNeutron scattering010402 general chemistry01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health scienceschemistry.chemical_compoundMoleculelcsh:ScienceLipid bilayerEcology Evolution Behavior and Systematicschemistry.chemical_classification[SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry Molecular Biology/Structural Biology [q-bio.BM]neutron scatteringPaleontologyPolymer0104 chemical sciencesmononucleotide mobility[SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biomolecules [q-bio.BM]030104 developmental biologyMembranechemistryBiochemistryDeuteriumPolymerizationSpace and Planetary ScienceChemical physicslcsh:Qlipids (amino acids peptides and proteins)hydration
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PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients

2019

Dyslipidemia and altered iron metabolism are typical features of nonalcoholic fatty liver disease (NAFLD). Proprotein convertase subtilisin/kexin type 7 (PCSK7) gene variation has been associated with circulating lipids and liver damage during iron overload. The aim of this study was to examine the impact of the PCSK7 rs236918 variant on NAFLDrelated traits in 1,801 individuals from the Liver Biopsy Cohort (LBC), 500,000 from the UK Biobank Cohort (UKBBC), and 4,580 from the Dallas Heart Study (DHS). The minor PCSK7 rs236918 C allele was associated with higher triglycerides, aminotransferases, and hepatic inflammation in the LBC (P < 0.05) and with hypercholesterolemia and liver disease …

0301 basic medicinenonalcoholic fatty liver diseasemedicine.medical_specialtyDyslipidemias; Genetics; Inflammation; Liver; Triglycerides; genes in lipid dysfunction; metabolic disease; non-alcoholic fatty liver diseaseHyperlipidemiasInflammationQD415-436030204 cardiovascular system & hematologyBiochemistryproprotein convertase subtilisin/kexin type 703 medical and health sciencesLiver disease0302 clinical medicineEndocrinologyGeneticInternal medicineNonalcoholic fatty liver diseasemedicineGeneticsHumansSubtilisinsAlleleTriglyceridesDyslipidemiasHypertriglyceridemiaInflammationgenes in lipid dysfunctionmedicine.diagnostic_testbusiness.industrynon-alcoholic fatty liver diseaseCell Biologymedicine.diseasemetabolic disease030104 developmental biologyEndocrinologyLiverLiver biopsyLipogenesisKexinmedicine.symptomPatient-Oriented and Epidemiological ResearchbusinessDyslipidemia
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Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis

2019

CTSD (cathepsin D) is one of the major lysosomal proteases indispensable for the maintenance of cellular proteostasis by turning over substrates of endocytosis, phagocytosis and autophagy. Consequently, CTSD deficiency leads to a strong impairment of the lysosomal-autophagy machinery. In mice and humans CTSD dysfunction underlies the congenital variant (CLN10) of neuronal ceroid lipofuscinosis (NCL). NCLs are distinct lysosomal storage disorders (LSDs) sharing various hallmarks, namely accumulation of protein aggregates and ceroid lipofuscin leading to neurodegeneration and blindness. The most established and clinically approved approach to treat LSDs is enzyme replacement therapy (ERT) aim…

0301 basic medicineproteolysisCathepsin DCathepsin DCathepsin BstorageCathepsin L03 medical and health sciencesSequestosome 1Neuronal Ceroid-LipofuscinosesAutophagymedicineAnimalsHumansEnzyme Replacement TherapyeducationMolecular BiologyMice Knockouttherapyeducation.field_of_studyTripeptidyl-Peptidase 1030102 biochemistry & molecular biologybiologyAutophagy; cathepsin D; enzyme replacement therapy; lysosome; neuronal ceroid lipofuscinosis; proteolysis; storage; therapyBrainCell BiologyFibroblastsTripeptidyl peptidase Imedicine.diseaseLRP1Cell biologyDisease Models Animal030104 developmental biologylysosomebiology.proteinAllograft inflammatory factor 1Neuronal ceroid lipofuscinosisneuronal ceroid lipofuscinosisLysosomesResearch PaperAutophagy
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A Perspective : Active Role of Lipids in Neurotransmitter Dynamics

2019

AbstractSynaptic neurotransmission is generally considered as a function of membrane-embedded receptors and ion channels in response to the neurotransmitter (NT) release and binding. This perspective aims to widen the protein-centric view by including another vital component—the synaptic membrane—in the discussion. A vast set of atomistic molecular dynamics simulations and biophysical experiments indicate that NTs are divided into membrane-binding and membrane-nonbinding categories. The binary choice takes place at the water-membrane interface and follows closely the positioning of the receptors’ binding sites in relation to the membrane. Accordingly, when a lipophilic NT is on route to a m…

0301 basic medicinesynaptic neurotransmissionSynaptic cleftNeuroscience (miscellaneous)NeurotransmissionlipiditSynaptic vesicleSynaptic TransmissionSynaptic neurotransmissionArticlesolukalvotmembrane lipid composition (MLC)03 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compound0302 clinical medicineSynaptic receptormembrane-based sortingAnimalsHumansmolekyylidynamiikkaNeurotransmittermolecular dynamics (MD)Binding siteNeurotransmitterReceptorvälittäjäaineetIon channelNeurotransmitter AgentsmolekyylineurologiaMembrane lipid composition (MLC)Molecular dynamics (MD)Lipid MetabolismLipids030104 developmental biologyNeurologychemistrySynapsesBiophysicsSynaptic VesiclessynapsitMembrane-based sorting030217 neurology & neurosurgeryFunction (biology)neurotransmittersynaptic receptor
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Hidden complexity in membrane permeabilization behavior of antimicrobial polycations.

2021

A promising alternative to classical antibiotics are antimicrobial peptides and their synthetic mimics (smAMPs) that supposedly act directly on membranes. For a more successful design of smAMPs, we need to know how the type of interaction with the membrane determines the type of membrane perturbation. How this, in turn, transfers into selectivity and microbial killing activity is largely unknown. Here, we characterize the action of two smAMPs: MM:CO (a copolymer of hydrophobic cyclooctyl subunits and charged β-monomethyl-α-aminomethyl subunits) and the highly charged poly-NM (a homopolymer of α-aminomethyl subunits). By thorough characterization of vesicle leakage experiments, we elucidate …

0303 health sciencesMembrane permeabilizationChemistryVesicleKineticsAntimicrobial peptidesStatic ElectricityGeneral Physics and Astronomy010402 general chemistryAntimicrobialFluoresceins01 natural sciencesPermeability0104 chemical sciences03 medical and health sciencesMembraneGlycerophosphatesBiophysicsPhysical and Theoretical ChemistryHydrophobic and Hydrophilic InteractionsUnilamellar Liposomes030304 developmental biologyLeakage (electronics)Antimicrobial Cationic PeptidesProtein BindingPhysical chemistry chemical physics : PCCP
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Crustacean Hemolymph Lipoproteins

2020

Lipoproteins mediate the transport of apolar lipids in the hydrophilic environment of physiological fluids such as the vertebrate blood and the arthropod hemolymph. In this overview, we will focus on the hemolymph lipoproteins in Crustacea that have received most attention during the last years: the high density lipoprotein/β-glucan binding proteins (HDL-BGBPs), the vitellogenins (VGs), the clotting proteins (CPs) and the more recently discovered large discoidal lipoproteins (dLPs). VGs are female specific lipoproteins which supply both proteins and lipids as storage material for the oocyte for later use by the developing embryo. Unusual within the invertebrates, the crustacean yolk protein…

0303 health sciencesanimal structuresfood.ingredientbiologyApolipoprotein Bfungi030302 biochemistry & molecular biology03 medical and health scienceschemistry.chemical_compoundVitellogeninHigh-density lipoproteinfoodBiochemistrychemistryYolkHemolymphbiology.proteinlipids (amino acids peptides and proteins)VitellogeninsPlant lipid transfer proteins030304 developmental biologyLipoprotein
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Association of liver steatosis with lipid oversecretion and hypotriglyceridaemia in C57BL/6j mice fed trans-10, cis-12-linoleic acid

2003

AbstractConjugated linoleic acids (CLA) have recently been recognized to reduce body fat and plasma lipids in some animals. This study demonstrated that the steatosis accompanying the fat loss induced by trans-10,cis-12-C18:2 (CLA2) and not cis-9,trans-11-C18:2 (CLA1) isomer in C57BL/6j mice was not due to an alteration of the liver lipoprotein production that was even increased. The 3-fold decrease in plasma triacylglycerol contents and the induction of mRNA expression of low-density lipoprotein receptors concomitantly observed in CLA2-fed mice suggested an increase in the lipoprotein clearance at the level of the liver itself. CLA1 feeding produced similar but attenuated effects on trigly…

030309 nutrition & dieteticsConjugated linoleic acidLiver steatosisLipoproteins VLDLBiochemistrychemistry.chemical_compoundMiceStructural BiologyLipoproteinReceptorComputingMilieux_MISCELLANEOUSchemistry.chemical_classification0303 health sciencesFatty AcidsLiverlipids (amino acids peptides and proteins)Conjugated linoleic acidmedicine.medical_specialtyLinoleic acidBiophysics[SDV.BC]Life Sciences [q-bio]/Cellular BiologyTriacylglycerolLinoleic Acid03 medical and health sciencesInternal medicineGeneticsmedicineAnimalsLow-density lipoprotein receptorRNA MessengerMolecular BiologyTriglycerides030304 developmental biologyDNA PrimersBase SequenceEsterificationMyocardiumBody WeightRNAFatty acidCell BiologyFatty acidmedicine.diseaseFatty LiverMice Inbred C57BLEndocrinologychemistryLDL receptorSteatosisLipoprotein
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