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showing 10 items of 4837 documents

Pharmacological modulation of protein kinases as a new approach to treat addiction to cocaine and opiates.

2016

Drug addiction shares brain mechanisms and molecular substrates with learning and memory processes, such as the stimulation of glutamate receptors and their downstream signalling pathways. In the present work we provide an up-to-date review of studies that have demonstrated the implication of the main memory-related calcium-dependent protein kinases in opiate and cocaine addiction. The effects of these drugs of abuse in different animal models of drug reward, dependence and addiction are altered by manipulation of the mitogen-activated protein kinase (MAPK) family, particularly extracellular signal regulated kinase (ERK), calcium/calmodulin-dependent kinase II (CaMKII), the protein kinase C…

0301 basic medicineMAPK/ERK pathwaymedia_common.quotation_subjectIntracellular SpacePharmacology03 medical and health sciencesCocaine-Related Disorders0302 clinical medicineCa2+/calmodulin-dependent protein kinaseMedicineAnimalsHumansProtein kinase AProtein kinase Cmedia_commonPharmacologybusiness.industryKinaseAddictionCyclin-dependent kinase 5Opioid-Related Disorders030104 developmental biologybusinesscGMP-dependent protein kinaseProtein Kinases030217 neurology & neurosurgeryEuropean journal of pharmacology
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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

2020

IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions.Materials and methodsSubsequent data sharing allowed the clustering of de novo TFE3 variants identified by exome sequencing on DNA extracted from leucocytes in patients referred for syndromic ID with or with…

0301 basic medicineMESH: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyIntellectual disabilityTFE3Biology[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsMESH: Intellectual Disability03 medical and health sciencesExon0302 clinical medicineMESH: Whole Exome SequencingMESH: ChildIntellectual disabilityGeneticsmedicineMissense mutationGeneGenetics (clinical)Exome sequencingPigmentary mosaicismMESH: Pathology MolecularGeneticsMESH: AdolescentMESH: HumansAlternative splicingLysosomal metabolismMESH: Child Preschool[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyMESH: Adultmedicine.diseasePhenotypeMESH: InfantMESH: MaleTFE3Storage disorder030104 developmental biologyMESH: Genes X-Linked[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsMESH: Young AdultMESH: EpilepsyMESH: MosaicismMESH: Pigmentation DisordersMESH: Female030217 neurology & neurosurgery
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Adolescent and adult mice display differential sensitivity to the effects of bupropion on the acquisition of a water maze task.

2017

Abstract Background Adolescence is characterized by major neurobiological changes, and the effects of some psychoactive drugs seem to differ between adolescents and adults. Bupropion, an antidepressant that is also used to treat nicotine addiction, induces behavioral actions in both adolescent and adult rodents. However, the effects of this drug on spatial ability have not been compared in animals at different stages of their development. The present study was conducted to assess the effects of bupropion on spatial learning and memory in adolescent and adult mice. Methods Adolescent (post-natal day: PND35-36) and adult (PND >65) NMRI mice received bupropion (10, 20 and 40 mg/kg) or saline d…

0301 basic medicineMaleAgingSpatial abilityPhysiologyMorris water navigation taskWater mazePharmacologyAffect (psychology)Task (project management)03 medical and health sciencesMice0302 clinical medicineEscape ReactionMemoryStatistical significancemental disordersmedicineAnimalsMaze LearningBupropionPharmacologyBupropionDose-Response Relationship DrugAge FactorsWaterGeneral Medicine030104 developmental biologyAntidepressantAntidepressive Agents Second-GenerationPsychologypsychological phenomena and processes030217 neurology & neurosurgerymedicine.drugPharmacological reports : PR
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Relationship Between Body Mass Index, ApoE4 Status, and PET-Based Amyloid and Neurodegeneration Markers in Amyloid-Positive Subjects with Normal Cogn…

2018

Body weight loss in late-life is known to occur at a very early stage of Alzheimer's disease (AD). Apolipoprotein E4 (ApoE4) represents a major genetic risk factor for AD and is linked to an increased cortical amyloid-β (Aβ) accumulation. Since the relationship between body weight, ApoE4, and AD pathology is poorly investigated, we aimed to evaluate whether ApoE4 allelic status modifies the association of body mass index (BMI) with markers of AD pathology. A total of 368 Aβ-positive cognitively healthy or mild cognitive impaired subjects had undergone [18F]-AV45-PET, [18F]-FDG-PET, and T1w-MRI examinations. Composite cortical [18F]-AV45 uptake and [18F]-FDG uptake in posterior cingulate cor…

0301 basic medicineMaleApolipoprotein E4Body Mass Index0302 clinical medicineCognitionWeight lossCognitive declineAniline CompoundsGeneral NeuroscienceNeurodegenerationBrainCognitionNeurodegenerative DiseasesGeneral MedicinePsychiatry and Mental healthClinical PsychologyEthylene GlycolsFemalemedicine.symptommedicine.medical_specialtyAmyloidHeterozygote03 medical and health sciencesFluorodeoxyglucose F18Internal medicinemental disordersWeight LossmedicineHumansCognitive DysfunctionEffects of sleep deprivation on cognitive performanceAdaptor Proteins Signal TransducingAgedbusiness.industryZebrafish Proteinsmedicine.diseaseCortex (botany)Repressor Proteins030104 developmental biologyEndocrinologyGlucosePosterior cingulatePositron-Emission TomographyGeriatrics and GerontologyRadiopharmaceuticalsbusinessNeuroscienceBody mass index030217 neurology & neurosurgeryFollow-Up StudiesJournal of Alzheimer's disease : JAD
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Blockade of nitric oxide signalling promotes resilience to the effects of social defeat stress on the conditioned rewarding properties of MDMA in mice

2020

Abstract MDMA abuse continues being a serious problem in our society. Environmental factors, such as stress, increase the vulnerability of individuals to develop drug abuse and we have observed that exposure to social defeat (SD) stress alters the sensitivity of mice to the rewarding effects of MDMA in the conditioned place preference (CPP) paradigm. In the present study, we evaluated the role of the nitric oxide (NO) pathway in the effects of SD on the rewarding properties of MDMA. Three groups of mice were treated with an inhibitor of NO synthesis, 7-nitroindazole (0, 7.25 and 12.5 mg/kg), before each exposure to SD and place conditioning with MDMA (1.25 mg/kg) on PND 54, 56, 58, and 60. …

0301 basic medicineMaleCancer Researchmedicine.medical_specialty7-NitroindazoleIndazolesMDMAPhysiologyN-Methyl-34-methylenedioxyamphetamineClinical BiochemistryHippocampusMice Inbred StrainsStriatum030204 cardiovascular system & hematologyNitric OxideBiochemistrySocial defeat03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineSocial defeatInternal medicineConditioning Psychologicalmental disordersmedicineAnimalsPrefrontal cortex7-NitroindazoleSocial stressDose-Response Relationship Drugbusiness.industryMDMANitric oxideConditioned place preferenceConditioned place preference030104 developmental biologyEndocrinologychemistrybusinessStress Psychologicalpsychological phenomena and processesmedicine.drugSignal Transduction
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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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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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Prevalence and determinants of non-alcoholic fatty liver disease in lifelines: A large Dutch population cohort

2017

BACKGROUND & AIMS Non-alcoholic fatty liver disease is an increasing health issue that develops rather unnoticed with obesity, type 2 diabetes mellitus and metabolic syndrome. We investigated prevalence, determinants and associated metabolic abnormalities of non-alcoholic fatty liver disease in the largest population-based cohort to date. METHODS Biochemical characteristics, type 2 diabetes mellitus and metabolic syndrome were determined in the Lifelines Cohort Study (N = 167,729), a population-based cohort in the North of the Netherlands. Non-alcoholic fatty liver disease was defined as Fatty Liver Index (FLI)≥60. Exclusion criteria were age <18 years, immigrants, missing data to assess FL…

0301 basic medicineMaleCirrhosislcsh:MedicineGastroenterologyBiochemistryGLOMERULAR-FILTRATION-RATESTEATOHEPATITISWhite Blood Cells0302 clinical medicineEndocrinologyNon-alcoholic Fatty Liver DiseaseRisk FactorsAnimal CellsPrevalenceMedicine and Health SciencesDiabetes diagnosis and managementlcsh:ScienceNetherlandsMETABOLIC SYNDROME2. Zero hungerINSULIN-RESISTANCEMultidisciplinaryLiver DiseasesFatty liverMiddle AgedLipids3. Good healthType 2 DiabetesCholesterolHypertension030211 gastroenterology & hepatologyFemaleAnatomyCellular TypesResearch ArticleAdultmedicine.medical_specialtyHbA1cEndocrine DisordersImmune CellsImmunologyUNITED-STATESGastroenterology and Hepatology03 medical and health sciencesInsulin resistanceInternal medicineDiabetes mellitusmedicineDiabetes MellitusHumansHemoglobinHEPATIC STEATOSISHepatitisBlood Cellsbusiness.industryCholesterol HDLlcsh:RType 2 Diabetes MellitusBiology and Life SciencesProteinsRenal SystemCell Biologymedicine.diseaseDiagnostic medicineFatty LiverSERUM CREATININE VALUESRENAL-DISEASE030104 developmental biologyEndocrinologyCross-Sectional StudiesDiabetes Mellitus Type 2ATHEROSCLEROSISHyperglycemiaMetabolic DisordersRISK-FACTORSlcsh:QSteatohepatitisMetabolic syndromebusiness
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Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies.

2019

Cohesin complex disruption alters gene expression, and cohesin mutations are common in myeloid neoplasia, suggesting a critical role in hematopoiesis. Here, we explore cohesin dynamics and regulation of hematopoietic stem cell homeostasis and differentiation. Cohesin binding increases at active regulatory elements only during erythroid differentiation. Prior binding of the repressive Ets transcription factor Etv6 predicts cohesin binding at these elements and Etv6 interacts with cohesin at chromatin. Depletion of cohesin severely impairs erythroid differentiation, particularly at Etv6-prebound loci, but augments self-renewal programs. Together with corroborative findings in acute myeloid le…

0301 basic medicineMaleCohesin complexChromosomal Proteins Non-HistoneImmunologyGene DosageCell Cycle ProteinsBiologyRegulatory Sequences Nucleic AcidBiochemistryHistones03 medical and health sciences0302 clinical medicineNeoplasmshemic and lymphatic diseasesCell Line TumorBiomarkers TumorHumansTranscription factorRegulation of gene expressionHematopoietic stem cell homeostasisMyeloid NeoplasiaMyeloproliferative DisordersCohesinProto-Oncogene Proteins c-etsGene Expression Regulation LeukemicETS transcription factor familyMyeloid leukemiafood and beveragesCell BiologyHematologyHematopoietic Stem CellsCell biologyChromatinHematopoiesisRepressor Proteins030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisMutationFemalesense organsbiological phenomena cell phenomena and immunityNeoplasm GradingBLOOD CommentaryProtein BindingBlood
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Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
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