Search results for "OTR"

showing 10 items of 6791 documents

Negatively Charged Gangliosides Promote Membrane Association of Amphipathic Neurotransmitters

2018

Lipophilic neurotransmitters (NTs) such as dopamine are chemical messengers enabling neurotransmission by adhering onto the extracellular surface of the post-synaptic membrane in a synapse, followed by binding to their receptors. Previous studies have shown that the strength of the NT-membrane association is dependent on the lipid composition of the membrane. Negatively charged lipids such as phosphatidylserine, phosphatidylglycerol, and phosphatidic acid have been indicated to promote NT-membrane binding, however these anionic lipids reside almost exclusively in the intracellular leaflet of the post-synaptic membrane instead of the extracellular leaflet facing the synaptic cleft. Meanwhile…

0301 basic medicineMOLECULAR-DYNAMICS SIMULATIONSBIOMOLECULAR SYSTEMSkolesteroliasetyylikoliiniSynaptic TransmissionsolukalvotCell membranechemistry.chemical_compoundSCHIZOPHRENIAmolekyylidynamiikkamolecular dynamics (MD)neurotransmissionvälittäjäaineetChemistryLIPID-MEMBRANESGeneral NeurosciencePhosphatidylserineALZHEIMERS-DISEASEMembranemedicine.anatomical_structureHAMILTONIAN REPLICA EXCHANGElipids (amino acids peptides and proteins)dopamineIntracellularneurotransmittermonosialotetrahexosylganglioside (GM1)Synaptic cleftG(M1) GangliosideMolecular Dynamics SimulationNeurotransmission03 medical and health sciencesExtracellularmedicineAnimalsmonosialotetrahexosylgangliosidebinding free energyPhosphatidylglyceroldopamiiniBinding SitesCell Membranehistamiini3112 Neurosciencesta1182cholesterolBILAYERhistamineacetylcholinehermosolut030104 developmental biologyFORCE-FIELDBiophysicssynapsit
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The IgGFc-binding protein FCGBP is secreted with all GDPH sequences cleaved but maintained by interfragment disulfide bonds

2021

Mucus forms an important protective barrier that minimizes bacterial contact with the colonic epithelium. Intestinal mucus is organized in a complex network with several specific proteins, including the mucin-2 (MUC2) and the abundant IgGFc-binding protein, FCGBP. FCGBP is expressed in all intestinal goblet cells and is secreted into the mucus. It is comprised of repeated von Willebrand D (vWD) domain assemblies, most of which have a GDPH amino acid sequence that can be autocatalytically cleaved, as previously observed in the mucins MUC2 and mucin-5AC. However, the functions of FCGBP in the mucus are not understood. We show that all vWD domains of FCGBP with a GDPH sequence are cleaved and …

0301 basic medicineMUC5AC mucin-5ACMUC2 mucin-2 (Muc2 mouse)vWF von Willebrand factorBiochemistryvon Willebrand domainchemistry.chemical_compoundPVDF polyvinylidene difluorideMiceCricetinaeDisulfidesIntestinal MucosaPeptide sequenceEndoH endoglycosidase HbiologyChemistryrespiratory systemGDPH Gly-Asp-Pro-HisChaotropic agentBiochemistryWB Western blotIodoacetamideGuHCl guanidinium chlorideResearch ArticleIgG immunoglobulin GvWD von Willebrand D domainCHO CellsCHO Chinese hamster ovary03 medical and health sciencesEndoglycosidase HCricetulusProtein Domainsmucusvon Willebrand FactorAnimalsHumansintestinal epitheliumMolecular BiologyintestineFCGBP IgGFc-binding protein (Fcgbp mouse)GAPH Gly-Ala-Pro-HisMucin-2030102 biochemistry & molecular biologycolonBinding proteinEndoplasmic reticulumMucinITH3 inter-alpha-trypsin inhibitor heavy chain 3Cell BiologyMucusMice Inbred C57BL030104 developmental biologyMUC2Proteolysisbiology.proteinImmunoglobulin G (IgG)IAA iodoacetamideCell Adhesion MoleculesdisulfideThe Journal of Biological Chemistry
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NT3/TrkC Pathway Modulates the Expression of UCP-1 and Adipocyte Size in Human and Rodent Adipose Tissue

2021

Neurotrophin-3 (NT3), through activation of its tropomyosin-related kinase receptor C (TrkC), modulates neuronal survival and neural stem cell differentiation. It is widely distributed in peripheral tissues (especially vessels and pancreas) and this ubiquitous pattern suggests a role for NT3, outside the nervous system and related to metabolic functions. The presence of the NT3/TrkC pathway in the adipose tissue (AT) has never been investigated. Present work studies in human and murine adipose tissue (AT) the presence of elements of the NT3/TrkC pathway and its role on lipolysis and adipocyte differentiation. qRT-PCR and immunoblot indicate that NT3 (encoded by NTF3) was present in human re…

0301 basic medicineMaleAgingSympathetic Nervous SystemEndocrinology Diabetes and Metabolismbeta-adrenoceptorsAdipose tissueWhite adipose tissueTropomyosin receptor kinase Clcsh:Diseases of the endocrine glands. Clinical endocrinologychemistry.chemical_compound0302 clinical medicineEndocrinologyAdipocyteBrown adipose tissueUncoupling Protein 1Original ResearchbiologyChemistryCell Differentiationtropomyosin-related kinase receptor CCell biologymedicine.anatomical_structureAdipose Tissueembryonic structuresFemaleSignal Transductionanimal structuresadipocytesLipolysisUCP-1Mice TransgenicNeurotrophin-303 medical and health scienceswhite adipose tissueneurotrophin-3Receptors Adrenergic betamedicineLipolysisAnimalsHumansReceptor trkCRats WistarAgedCell Sizelcsh:RC648-665Body Weightbrown adipose tissue030104 developmental biologybiology.proteinBlood VesselsThermogenesis030217 neurology & neurosurgeryBiomarkersFrontiers in Endocrinology
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Initial serum thyroid peroxidase antibodies and long-term outcomes in SREAT.

2015

Objective To quantify clinical outcome in patients with steroid-responsive encephalopathy and associated autoimmune thyroiditis (SREAT) after the acute phase and explore potential associations of initial serum thyroid peroxidase antibody titers (TPO-Abs) with outcome. Materials and methods Retrospective chart review of patients diagnosed with SREAT between 01/2005 and 05/2014 in a tertiary care center and followed in an affiliated autoimmune outpatient clinic. Outcome was quantified using the extended Glasgow Outcome Scale (GOS-E). We calculated Pearson's correlation coefficients to quantify associations with clinical outcome at follow-up. Results Among 134 patients with encephalopathy of u…

0301 basic medicineMaleAnti-Inflammatory AgentsGlasgow Outcome Scaleblood [Iodide Peroxidase]0302 clinical medicineblood [Hashimoto Disease]blood [Encephalitis]Outpatient clinicHashimoto Diseasebiologytherapy [Hashimoto Disease]Glasgow Outcome Scaletherapy [Encephalitis]therapeutic use [Anti-Inflammatory Agents]General MedicineMiddle Agedblood [Thyroiditis Autoimmune]Magnetic Resonance Imagingtherapy [Thyroiditis Autoimmune]Treatment OutcomeNeurologyEncephalitisFemaleSteroidsImmunosuppressive AgentsAdultmedicine.medical_specialtyEncephalopathyHashimoto DiseaseIodide PeroxidaseAutoimmune thyroiditisanalysis [Autoantibodies]03 medical and health sciencesimmunology [Thyroiditis Autoimmune]Thyroid peroxidaseInternal medicinemedicineHumansddc:610immunology [Encephalitis]therapeutic use [Steroids]AgedAutoantibodiesRetrospective Studiesbusiness.industrytherapeutic use [Methotrexate]Thyroiditis AutoimmuneRetrospective cohort studymedicine.diseasetherapeutic use [Immunosuppressive Agents]immunology [Hashimoto Disease]030104 developmental biologyMethotrexateImmunologybiology.proteinEtiologyNeurology (clinical)businessimmunology [Iodide Peroxidase]030217 neurology & neurosurgeryFollow-Up StudiesActa neurologica Scandinavica
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Oleoylethanolamide restores alcohol-induced inhibition of neuronal proliferation and microglial activity in striatum

2019

Previous findings demonstrate a homeostatic role for oleoylethanolamide (OEA) signaling in the ethanol-related neuroinflammation and behavior. However, extensive research is still required in order to unveil the effects of OEA on a number of neurobiological functions such as adult neurogenesis, cell survival and resident neuroimmunity that become notably altered by alcohol. Daily consumption of ethanol (10%) for 2 weeks (6.3& #x202F;± 1.1 g/kg/day during last 5 days) caused hypolocomotor activity in rats. This effect appears to rely on central signaling mechanisms given that alcohol increased the OEA levels, the gene expression of OEA-synthesizing enzyme Nape-pld and the number of PPARα-imm…

0301 basic medicineMaleApoptosisOleic AcidsStriatumPPARαOleoylethanolamidechemistry.chemical_compound0302 clinical medicineNeuronseducation.field_of_studyCaspase 3NeurogenesisMicrofilament ProteinsAlanine Transaminasegamma-GlutamyltransferaseHepatobiliary EliminationEthanolaminesMicrogliaAlcoholProto-Oncogene Proteins c-fosLocomotionFOSBSignal Transductionmedicine.medical_specialtyAlcohol DrinkingCell SurvivalPolyunsaturated AlkamidesNeurogenesisPopulationCaspase 3Arachidonic AcidsStriatumAmidohydrolases03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicineGlial Fibrillary Acidic ProteinmedicinePhospholipase DAnimalsPPAR alphaAspartate AminotransferasesProgenitor cellRats WistareducationNeuroinflammationCell ProliferationPharmacologyEthanolCalcium-Binding ProteinsRatsNeostriatum030104 developmental biologyEndocrinologychemistry030217 neurology & neurosurgeryEndocannabinoids
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Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease

2019

AbstractNonalcoholic fatty liver disease (NAFLD) is a rising cause of hepatocellular carcinoma (HCC). We examined whether inherited pathogenic variants in candidate genes (n = 181) were enriched in patients with NAFLD-HCC. To this end, we resequenced peripheral blood DNA of 142 NAFLD-HCC, 59 NAFLD with advanced fibrosis, and 50 controls, and considered 404 healthy individuals from 1000 G. Pathogenic variants were defined according to ClinVar, likely pathogenic as rare variants predicted to alter protein activity. In NAFLD-HCC patients, we detected an enrichment in pathogenic (p = 0.024), and likely pathogenic variants (p = 1.9*10−6), particularly in APOB (p = 0.047). APOB variants were asso…

0301 basic medicineMaleCandidate geneApolipoprotein Blcsh:MedicineGastroenterologyLiver diseasechemistry.chemical_compound0302 clinical medicineNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseSequestosome-1 ProteinGenetic riskHCClcsh:ScienceMultidisciplinarybiologyLiver NeoplasmsMiddle Aged3. Good healthCholesterolHepatocellular carcinomaApolipoprotein B-100FemaleAged; Apolipoprotein B-100; Carcinoma Hepatocellular; Case-Control Studies; Cholesterol HDL; Female; Genetic Predisposition to Disease; Glial Cell Line-Derived Neurotrophic Factor Receptors; Humans; Liver Neoplasms; Male; Middle Aged; Non-alcoholic Fatty Liver Disease; Reproducibility of Results; Risk Factors; Sequestosome-1 Proteinmedicine.medical_specialtyCarcinoma HepatocellularGlial Cell Line-Derived Neurotrophic Factor ReceptorsHDLSettore BIO/18 - GENETICAdigestive systemArticle03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseGeneAgedCholesterolbusiness.industrylcsh:RCarcinomaCholesterol HDLnutritional and metabolic diseasesReproducibility of ResultsHepatocellularmedicine.diseasedigestive system diseases030104 developmental biologychemistryNASH HCCCase-Control Studiesbiology.proteinlcsh:Qgeneticbusiness030217 neurology & neurosurgery
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Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal Diseases.

2018

Purpose The aim of the present study was to identify candidate genes for mediating daily adjustment of vision. Methods Genes important for vision and genetically associated with severe retinal diseases were tested for 24-hour rhythms in transcript levels in neuronal retina, microdissected photoreceptors, photoreceptor-related pinealocytes, and retinal pigment epithelium-choroid (RPE-choroid) complex by using quantitative PCR. Results Photoreceptors of wildtype mice display circadian clock-dependent regulation of visual arrestins (Arr1, Arr4) and the visual cycle gene Rdh12, whereas cells of the RPE-choroid exhibit light-dependent regulation of the visual cycle key genes Lrat, Rpe65, and Rdh…

0301 basic medicineMaleCandidate genegenetic structuresArrestinsRetinal Pigment EpitheliumBiologyRetinaPinealocyte570 Life sciencesvisual cyclevisual arrestinRats Sprague-Dawley03 medical and health scienceschemistry.chemical_compoundMiceRetinal DiseasesmedicineElectroretinographyAnimalsCircadian rhythmVision OcularRetinaDiabetic Retinopathymedicine.diagnostic_testRetinal DehydrogenaseRetinalcircadian regulationeye diseasesCell biologyCircadian RhythmRatsMice Inbred C57BLAlcohol OxidoreductasesDisease Models Animal030104 developmental biologymedicine.anatomical_structureRPE65chemistryGene Expression RegulationRetinal Cone Photoreceptor CellsFemalesense organsElectroretinographyVisual phototransduction570 BiowissenschaftenInvestigative ophthalmologyvisual science
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Cannabinoid receptor expression in non-small cell lung cancer. Effectiveness of tetrahydrocannabinol and cannabidiol inhibiting cell proliferation an…

2020

Background/Objective Patients with non-small cell lung cancer (NSCLC) develop resistance to antitumor agents by mechanisms that involve the epithelial-to-mesenchymal transition (EMT). This necessitates the development of new complementary drugs, e.g., cannabinoid receptors (CB1 and CB2) agonists including tetrahydrocannabinol (THC) and cannabidiol (CBD). The combined use of THC and CBD confers greater benefits, as CBD enhances the effects of THC and reduces its psychotropic activity. We assessed the relationship between the expression levels of CB1 and CB2 to the clinical features of a cohort of patients with NSCLC, and the effect of THC and CBD (individually and in combination) on prolifer…

0301 basic medicineMaleCannabinoid receptorLung NeoplasmsPulmonologymedicine.medical_treatmentGene ExpressionBiochemistryLung and Intrathoracic TumorsReceptor Cannabinoid CB20302 clinical medicineContractile ProteinsReceptor Cannabinoid CB1Epidermal growth factorCarcinoma Non-Small-Cell LungMedicine and Health SciencesCannabidiolDronabinolAged 80 and overMultidisciplinaryChemistryQRDrugsMiddle AgedCancer Cell MigrationCell MotilityOncologyCell Processes030220 oncology & carcinogenesisMedicinelipids (amino acids peptides and proteins)Femalemedicine.drugResearch ArticleAdultEpithelial-Mesenchymal TransitionScienceChronic Obstructive Pulmonary DiseaseCell Migration03 medical and health sciencesCell Line Tumormental disordersmedicineGeneticsHumansEpithelial–mesenchymal transitionTetrahydrocannabinolCell ProliferationAgedA549 cellPharmacologyCannabinoid Receptor AgonistsPsychotropic DrugsCell growthCannabinoidsorganic chemicalsCancers and NeoplasmsBiology and Life SciencesProteinsCell Biologydigestive system diseasesActinsrespiratory tract diseasesNon-Small Cell Lung CancerCytoskeletal Proteins030104 developmental biologyA549 CellsCancer researchCannabinoidCannabidiolDevelopmental BiologyPLoS ONE
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Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification

2020

International audience; Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromo…

0301 basic medicineMaleCerebellumPathology[SDV]Life Sciences [q-bio]recessive brain calcificationMice0302 clinical medicineCognitive declineAge of OnsetChildGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUSBrain Diseasesprimary familial brain calcificationMalalties neurodegenerativesBrainFahr diseaseCalcinosisOCLNNeurodegenerative DiseasesHuman brainMiddle AgedPedigree[SDV] Life Sciences [q-bio]medicine.anatomical_structureKnockout mouseFemalemedicine.symptomAdultmedicine.medical_specialtyAdolescentGenes RecessiveNeuropathologyBiologyCalcificacióCalcification03 medical and health sciencesBasal Ganglia DiseasesReportGeneticsmedicineAnimalsHumansAllelesSLC20A2Cerebellar ataxiaknock out mouse modelmedicine.diseaseJAM2030104 developmental biologyFahr disease; familial idiopathic basal ganglia calcification; JAM2; JAM3; knock out mouse model; MYORG; OCLN; primary familial brain calcification; recessive brain calcification; SLC20A2familial idiopathic basal ganglia calcificationJAM3MYORGXenotropic and Polytropic Retrovirus ReceptorCell Adhesion Molecules030217 neurology & neurosurgeryCalcification
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

2017

AbstractMutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more seve…

0301 basic medicineMaleCross-sectional studyDiseasemedicine.disease_causeCorrelation0302 clinical medicineCharcot-Marie-Tooth DiseaseGenotypePathologyYoung adultGeography MedicalChildGeneticsMutationMultidisciplinaryQRMiddle AgedPatologiaFenotipPhenotypeChild PreschoolMedicineFemalemedicine.symptomAdultAdolescentScienceNerve Tissue ProteinsAmiotròfia neural progressiva de Charcot-Marie-ToothCharcot-Marie-Tooth diseaseAsymptomaticArticle03 medical and health sciencesYoung AdultMagnetic resonance imagingImatges per ressonància magnèticamedicineHumansEspanyaGenetic Association StudiesAgedRetrospective Studiesbusiness.industryMutació (Biologia)Retrospective cohort studyMutation (Biology)030104 developmental biologyCross-Sectional StudiesSpainMutationbusiness030217 neurology & neurosurgery
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