Search results for "Molecule"

showing 10 items of 5162 documents

NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.

2018

See Contreras and Hippenmeyer (doi:10.1093/brain/awy218) for a scientific commentary on this article. Autism spectrum disorders (ASDs) are complex conditions with diverse aetiologies. Szczurkowska et al. demonstrate that two ASD-related molecules – FGFR2 and Negr1 – physically interact to act on the same downstream pathway, and regulate cortical development and ASD-relevant behaviours in mice. Identifying common mechanisms in ASDs may reveal targets for pharmacological intervention.

0301 basic medicineMAPK/ERK pathwaygenetic structuresAutism Spectrum DisorderFGFR2 signalingFibroblast growth factorReceptor tyrosine kinaseMiceautism; development; cell adhesion; in utero electroporation; FGFR2 signaling0302 clinical medicineCell MovementCerebral CortexMice KnockoutbiologyBehavior AnimalKinaseCell adhesion moleculeCell biologyProtein TransportSignal Transductionmusculoskeletal diseasesMAP Kinase Signaling SystemCell Adhesion Molecules NeuronalDendritic SpinesNeurogenesisautismDown-Regulationbehavioral disciplines and activities03 medical and health sciencesmental disordersmedicineAnimalsHumansAutistic DisorderReceptor Fibroblast Growth Factor Type 2developmentProtein kinase BFibroblast growth factor receptor 2Cell Membranecell adhesionOriginal Articlesin utero electroporationmedicine.diseaseMice Inbred C57BLDisease Models Animal030104 developmental biologyHEK293 Cellsbiology.proteinAutismNeurology (clinical)030217 neurology & neurosurgeryBrain : a journal of neurology
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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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Improved in vivo efficacy of clinical-grade cryopreserved human hepatocytes in mice with acute liver failure.

2020

Clinical hepatocyte transplantation short-term efficacy has been demonstrated; however, some major limitations, mainly due to the shortage of organs, the lack of quality of isolated cells and the low cell engraftment after transplantation, should be solved for increasing its efficacy in clinical applications. Cellular stress during isolation causes an unpredictable loss of attachment ability of the cells, which can be aggravated by cryopreservation and thawing. In this work, we focused on the use of a Good Manufacturing Practice (GMP) solution compared with the standard cryopreservation medium, the University of Wisconsin medium, for the purpose of improving the functional quality of cells …

0301 basic medicineMaleCancer ResearchCell SurvivalImmunologyCellCell- and Tissue-Based TherapyCell SeparationTissue BanksPharmacologyCryopreservation03 medical and health sciencesMice0302 clinical medicineCryoprotective AgentsIn vivomedicineImmunology and AllergyAnimalsHumansViability assayGenetics (clinical)CryopreservationTransplantationbusiness.industryCell adhesion moleculeLiver failureCell BiologyLiver Failure AcuteIn vitroTransplantationDisease Models Animal030104 developmental biologymedicine.anatomical_structureOncologyLiver030220 oncology & carcinogenesisHepatocytesbusinessCell Adhesion MoleculesCytotherapy
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Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

2016

International audience; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective w…

0301 basic medicineMaleCandidate genefamilyspeechHippocampal formationRats Sprague-Dawley0302 clinical medicineBorderline intellectual functioningNeuropsychological assessmentChilddisordersGenetics (clinical)Cells Culturedadhesion-like moleculesMembrane Glycoproteinsmedicine.diagnostic_testLearning DisabilitiesBrainMagnetic Resonance Imaging3. Good healthPedigreeMemory Short-TermBrain sizeFemaleAdultHeterozygotenmda receptorautismNerve Tissue ProteinsBiologyReceptors N-Methyl-D-AspartateArticle03 medical and health sciencesFluorodeoxyglucose F18[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyexpressionGeneticsmedicineAnimalsHumansMemory DisorderslanguageGenetic heterogeneityWorking memoryMembrane Proteinsdown-syndromeRats030104 developmental biologyEndophenotypePositron-Emission TomographySynapsesshort-termRadiopharmaceuticalsNeuroscience030217 neurology & neurosurgeryGene Deletion[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Endothelial Dab1 signaling orchestrates neuro-glia-vessel communication in the central nervous system.

2018

Developing the bloodbrain barrier During development, signals need to be dynamically integrated by endothelial cells, neurons, and glia to achieve functional neuro-glia-vascular units in the central nervous system. During cortical development, neuronal Dab1 and ApoER2 receptors respond to a guidance cue called reelin. Studying mice, Segarra et al. found that Dab1 and ApoER2 are also expressed in endothelial cells (see the Perspective by Thomas). The integration of reelin signaling in endothelial cells and neurons facilitates the communication between vessels, glia, and neurons that is necessary for the correct positioning of neurons during cortical development. This integration is also impo…

0301 basic medicineMaleCell signalingLow-density lipoprotein receptor-related protein 8EndotheliumCell Adhesion Molecules NeuronalCentral nervous systemNeovascularization PhysiologicNerve Tissue ProteinsCell Communication03 medical and health sciencesMiceCell MovementmedicineAnimalsReelinLDL-Receptor Related ProteinsCerebral CortexMice KnockoutNeuronsRetinaExtracellular Matrix ProteinsMultidisciplinarybiologyIntegrin beta1Serine EndopeptidasesRetinal VesselsDAB1Reelin Protein030104 developmental biologymedicine.anatomical_structurenervous systemCerebral cortexBlood-Brain Barrierbiology.proteinFemaleEndothelium VascularLamininNeuroscienceNeurogliaGene DeletionSignal TransductionScience (New York, N.Y.)
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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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Reduced interneuronal dendritic arborization in CA1 but not in CA3 region of mice subjected to chronic mild stress

2016

Abstract Introduction Chronic stress induces dendritic atrophy and decreases spine density in excitatory hippocampal neurons, although there is also ample evidence indicating that the GABAergic system is altered in the hippocampus after this aversive experience. Chronic stress causes dendritic remodeling both in excitatory neurons and interneurons in the medial prefrontal cortex and the amygdala. Methods In order to know whether it also has an impact on the structure and neurotransmission of hippocampal interneurons, we have analyzed the dendritic arborization, spine density, and the expression of markers of inhibitory synapses and plasticity in the hippocampus of mice submitted to 21 days …

0301 basic medicineMaleDendritic spineDendritic SpinesHippocampusPSA‐NCAMCell CountNeural Cell Adhesion Molecule L1Hippocampal formationBiologyNeurotransmissionAmygdalaHippocampus03 medical and health sciencesBehavioral NeuroscienceMice0302 clinical medicineInterneuronsNeuroplasticitymedicineAnimalsChronic stressCA1 Region HippocampalOriginal ResearchInhibitionNeuronal PlasticityGlutamate Decarboxylasemusculoskeletal neural and ocular physiologyfungiCA3 Region Hippocampalstructural plasticity030104 developmental biologymedicine.anatomical_structurenervous systemExcitatory postsynaptic potentialGAD67Sialic AcidsNeuroscience030217 neurology & neurosurgeryStress PsychologicalBrain and Behavior
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Tomato sauce enriched with olive oil exerts greater effects on cardiovascular disease risk factors than raw tomato and tomato sauce: a randomized tri…

2016

Epidemiological studies have observed a negative association between tomato intake and the incidence of cardiovascular disease. As tomato sauces are usually cooked with the addition of oil, some studies have pointed out that both processes may increase the bioavailability of the bioactive compounds. However, the effect of consumption of raw tomatoes and tomato sauces on inflammation biomarkers and adhesion molecules related to atherosclerosis remains unknown. The aim of this study was to test the postprandial effects of a single dose of raw tomatoes (RT), tomato sauce (TS) and tomato sauce with refined olive oil (TSOO) on cardiovascular disease risk factors. We performed an open, prospectiv…

0301 basic medicineMaleTime FactorsLymphocyteCD36postprandial030204 cardiovascular system & hematologytomatochemistry.chemical_compound0302 clinical medicineSolanum lycopersicumRisk FactorsTomàquetsFood scienceCookingProspective StudiesProspective cohort studyNutrition and DieteticsCross-Over Studiesbiologycardiovascularcookedfood and beveragesPostprandial PeriodLipidsInflamaciótomato; postprandial; cardiovascular; cooked; food matrix; bioavailabilityOli d'olivaPostprandialmedicine.anatomical_structureCardiovascular diseasesEstudi de casosCardiovascular DiseasesFemaleInflammation Mediatorslcsh:Nutrition. Foods and food supplyNutritive ValueAdultAdolescentlcsh:TX341-641Article03 medical and health sciencesYoung AdultTomatoesmedicineHumansSugarOlive OilInflammation030109 nutrition & dieteticsCholesterolbusiness.industryMalalties cardiovascularsProtective FactorsCrossover studyBioavailabilityDietchemistrySpainFruitbiology.proteinCase studiesbusinessEnergy IntakebioavailabilityCell Adhesion MoleculesBiomarkersfood matrixOlive oilFood Science
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Simultaneous Inhibition of Peripheral CB1R and iNOS Mitigates Obesity-Related Dyslipidemia Through Distinct Mechanisms.

2020

Diabetic dyslipidemia, characterized by increased plasma triglycerides and decreased HDL cholesterol levels, is a major factor contributing to nonalcoholic steatohepatitis and cardiovascular risk in type 2 diabetes. Activation of the cannabinoid-1 receptor (CB1R) and activation of inducible nitric oxide synthase (iNOS) are associated with nonalcoholic steatohepatitis progression. Here, we tested whether dual-targeting inhibition of hepatic CB1R and iNOS improves diabetic dyslipidemia in mice with diet-induced obesity (DIO mice). DIO mice were treated for 14 days with (S)-MRI-1867, a peripherally restricted hybrid inhibitor of CB1R and iNOS. (R)-MRI-1867, the CB1R-inactive stereoisomer that …

0301 basic medicineMaleVery low-density lipoproteinEndocrinology Diabetes and MetabolismNitric Oxide Synthase Type II[SDV.BC.IC] Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB][SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyMice0302 clinical medicineReceptor Cannabinoid CB1[SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]Receptor[SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry Molecular Biology/Biochemistry [q-bio.BM]Cells Cultured[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismbiology[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biomolecules [q-bio.BM]Nitric oxide synthaseLiver[SDV.SP.PHARMA] Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologyKexinlipids (amino acids peptides and proteins)medicine.medical_specialty[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]LipoproteinsImmunoblotting030209 endocrinology & metabolismReal-Time Polymerase Chain Reaction03 medical and health sciencesInternal medicineCommentariesInternal MedicinemedicineAnimalsObesity[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biochemistry [q-bio.BM]Dyslipidemiasbusiness.industry[SDV.OT] Life Sciences [q-bio]/Other [q-bio.OT]PCSK9nutritional and metabolic diseases[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseLipid Metabolism[SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyMice Inbred C57BL030104 developmental biologyEndocrinologyGlucoseLDL receptorbiology.proteinHepatocytes[SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologySteatosisbusinessDyslipidemia
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A [13]rotaxane assembled via a palladium molecular capsule

2019

Molecules that are the size of small proteins are difficult to make. The most frequently examined route is via self-assembly, and one particular approach involves molecular nanocapsules, where ligands are designed that will enforce the formation of specific polyhedra of metals within the core of the structure. Here we show that this approach can be combined with mechanically interlocking molecules to produce nanocapsules that are decorated on their exterior. This could be a general route to very large molecules, and is exemplified here by the synthesis and structural characterization of a [13]rotaxane, containing 150 metal centres. Small angle X-ray scattering combined with atomistic molecu…

0301 basic medicineMaterials scienceRotaxaneScienceInterlocked moleculesSupramolecular chemistryGeneral Physics and Astronomychemistry.chemical_elementNanotechnology02 engineering and technologyGeneral Biochemistry Genetics and Molecular BiologyNanocapsulesArticleMetal03 medical and health sciencesMolecular dynamicsMoleculelcsh:ScienceMultidisciplinaryMolecular capsulesQGeneral Chemistry021001 nanoscience & nanotechnologyCharacterization (materials science)030104 developmental biologychemistryvisual_artvisual_art.visual_art_mediumlcsh:Q0210 nano-technologyPalladiumNature Communications
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