Search results for "asm"

showing 10 items of 16598 documents

Reversible Axonal Dystrophy by Calcium Modulation in Frataxin-Deficient Sensory Neurons of YG8R Mice

2017

15 Pages, 8 Figures. The Supplementary Material for this article can be found online at: http://journal.frontiersin.org/article/10.3389/fnmol.2017.00264/full#supplementary-material

0301 basic medicineAtaxiaNeuriteFriedreich’s ataxiarare diseaseMitochondrionlcsh:RC321-57103 medical and health sciencesCellular and Molecular Neurosciencechemistry.chemical_compound0302 clinical medicineBAPTAmedicinelcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMolecular BiologyOriginal ResearchcalciumbiologyNeurodegenerationneurodegenerationFriedreich's ataxiaaxonal spheroidsmedicine.disease3. Good healthmitochondria030104 developmental biologyPeripheral neuropathychemistrynervous systemFrataxinbiology.proteinAxoplasmic transportmedicine.symptomNeuroscience030217 neurology & neurosurgeryNeuroscience
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Autophagy is induced by resistance exercise in young men, but unfolded protein response is induced regardless of age.

2017

AIM Autophagy and unfolded protein response (UPR) appear to be important for skeletal muscle homoeostasis and may be altered by exercise. Our aim was to investigate the effects of resistance exercise and training on indicators of UPR and autophagy in healthy untrained young men (n = 12, 27 ± 4 years) and older men (n = 8, 61 ± 6 years) as well as in resistance-trained individuals (n = 15, 25 ± 5 years). METHODS Indicators of autophagy and UPR were investigated from the muscle biopsies after a single resistance exercise bout and after 21 weeks of resistance training. RESULTS Lipidated LC3II as an indicator of autophagosome content increased at 48 hours post-resistance exercise (P < .05) and …

0301 basic medicineAutophagosomeAdultMalemedicine.medical_specialtyTime FactorsPhysiologyta3111Endoplasmic Reticulum03 medical and health sciencesYoung Adult0302 clinical medicineSex FactorsInternal medicinemedicineAutophagyHumansMuscle Strengthta315Muscle SkeletalsolufysiologiaAgedbusiness.industryEndoplasmic reticulumAutophagyResistance trainingAge FactorsAutophagosomesSkeletal muscleResistance TrainingMiddle AgedOxidative Stress030104 developmental biologyEndocrinologymedicine.anatomical_structureAgeingUnfolded protein responseUnfolded Protein ResponsevoimaharjoittelubusinessMicrotubule-Associated Proteins030217 neurology & neurosurgeryHomeostasisMuscle ContractionActa physiologica (Oxford, England)
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Secretion of autoimmune antibodies in the human subcutaneous adipose tissue

2018

The adipose tissue (AT) contributes to systemic and B cell intrinsic inflammation, reduced B cell responses and secretion of autoimmune antibodies. In this study we show that adipocytes in the human obese subcutaneous AT (SAT) secrete several pro-inflammatory cytokines and chemokines, which contribute to the establishment and maintenance of local and systemic inflammation, and consequent suboptimal immune responses in obese individuals, as we have previously shown. We also show that pro-inflammatory chemokines recruit immune cells expressing the corresponding receptors to the SAT, where they also contribute to local and systemic inflammation, secreting additional pro-inflammatory mediators.…

0301 basic medicineB CellsPhysiologylcsh:MedicineAutoimmunityPathology and Laboratory MedicineSystemic inflammationWhite Blood CellsAnimal CellsImmune PhysiologyPlasma cell differentiationAdipocytesMedicine and Health Scienceslcsh:ScienceImmune ResponseConnective Tissue CellsInnate Immune SystemMultidisciplinaryT CellsBody Fluids3. Good healthBloodmedicine.anatomical_structurePhysiological ParametersConnective TissueCytokinesChemokinesCellular TypesAnatomymedicine.symptomResearch ArticleLipolysisImmune CellsImmunologySubcutaneous FatInflammationBiology03 medical and health sciencesSigns and SymptomsImmune systemAntigenDiagnostic MedicinemedicineHumansObesityAntibody-Producing CellsB cellAutoantibodiesInflammationBlood CellsTumor Necrosis Factor-alphalcsh:RBody WeightAutoantibodyBiology and Life SciencesGerminal centerCell BiologyMolecular DevelopmentOxidative StressBiological Tissue030104 developmental biologyImmune SystemImmunologylcsh:QTranscription FactorsDevelopmental BiologyPLOS ONE
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Virus-encoded microRNA contributes to the molecular profile of EBV-positive Burkitt lymphomas

2015

Burkitt lymphoma (BL) is an aggressive neoplasm characterized by consistent morphology and phenotype, typical clinical behavior and distinctive molecular profile. The latter is mostly driven by the MYC over-expression associated with the characteristic translocation (8;14) (q24; q32) or with variant lesions. Additional genetic events can contribute to Burkitt Lymphoma pathobiology and retain clinical significance. A pathogenetic role for Epstein-Barr virus infection in Burkitt lymphomagenesis has been suggested; however, the exact function of the virus is largely unknown. In this study, we investigated the molecular profiles (genes and microRNAs) of Epstein-Barr virus-positive and -negative…

0301 basic medicineBART6; Burkitt lymphoma; EBV; miRNA; pathogenesisEpstein-Barr Virus InfectionsHerpesvirus 4 HumanpathogenesiRNA-binding proteinRNA-Binding ProteinEpstein-Barr Virus Infectionhemic and lymphatic diseasesCluster AnalysisViralOligonucleotide Array Sequence AnalysisGeneticsBART6; Burkitt lymphoma; EBV; miRNA; pathogenesis; Burkitt Lymphoma; Cluster Analysis; Cytoskeletal Proteins; Epstein-Barr Virus Infections; Gene Expression Profiling; Gene Expression Regulation Neoplastic; Gene Expression Regulation Viral; Herpesvirus 4 Human; Host-Pathogen Interactions; Humans; Immunohistochemistry; MicroRNAs; Neoplasm Proteins; Oligonucleotide Array Sequence Analysis; Phospholipase C delta; RNA Viral; RNA-Binding Proteins; Reverse Transcriptase Polymerase Chain Reaction; ras Proteins; OncologyReverse Transcriptase Polymerase Chain ReactionpathogenesisMicrofilament ProteinsIntracellular Signaling Peptides and ProteinsBurkitt lymphomaRNA-Binding ProteinsMicroRNAPhenotypeImmunohistochemistryNeoplasm ProteinsHost-Pathogen InteractionGene Expression Regulation NeoplasticOncologyHost-Pathogen InteractionsRNA ViralHumanResearch PaperGene Expression Regulation ViralBART6BiologySettore MED/08 - Anatomia PatologicaVirusNeoplasm Protein03 medical and health sciencesEBVmicroRNACytoskeletal ProteinmedicineHumansEpstein–Barr virus infectionGenemiRNANeoplasticCluster AnalysiOligonucleotide Array Sequence AnalysiGene Expression ProfilingHerpesvirus 4ras Proteinmedicine.diseaseLymphomaGene expression profilingCytoskeletal ProteinsMicroRNAs030104 developmental biologyGene Expression Regulationras ProteinsRNABART6; EBV; burkitt lymphoma; miRNA; pathogenesisPhospholipase C deltaOncotarget
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Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement

2018

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management …

0301 basic medicineBeckwith-Wiedemann SyndromeConsensusDNA Copy Number VariationsReproductive Techniques AssistedEndocrinology Diabetes and MetabolismLibrary science32 Biomedical and Clinical SciencesTranslational research030105 genetics & heredityPolymorphism Single NucleotideBildung03 medical and health sciencesRare DiseasesEndocrinologyPrenatal DiagnosisHumansMedicinemedia_common.cataloged_instancePediatric nephrologyChild growthEuropean union3202 Clinical Sciencesmedia_commonPediatricbusiness.industryEuropean researchExpert consensusDNA MethylationNeoplasms Germ Cell and EmbryonalNational health service3. Good healthMolecular Diagnostic Techniquesbusiness
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Dynamics and predicted drug response of a gene network linking dedifferentiation with β-catenin dysfunction in hepatocellular carcinoma

2019

Background & Aims Alterations of individual genes variably affect the development of hepatocellular carcinoma (HCC). Thus, we aimed to characterize the function of tumor-promoting genes in the context of gene regulatory networks (GRNs). Methods Using data from The Cancer Genome Atlas, from the LIRI-JP (Liver Cancer – RIKEN, JP project), and from our transcriptomic, transfection and mouse transgenic experiments, we identify a GRN which functionally links LIN28B-dependent dedifferentiation with dysfunction of β-catenin (CTNNB1). We further generated and validated a quantitative mathematical model of the GRN using human cell lines and in vivo expression data. Results We found that LIN28B and C…

0301 basic medicineBeta-cateninCarcinoma HepatocellularHepatocellular carcinomaLIN28BCellGene regulatory networkPrincipal component analysisMice TransgenicBiologyTransfectionTranscriptomeCohort Studies03 medical and health sciencesMice0302 clinical medicineMathematical modelmicroRNAmedicineAnimalsHumansGene Regulatory NetworksCTNNB1Genebeta CateninHepatologySequence Analysis RNALiver NeoplasmsGene regulatory networkRNA-Binding ProteinsHGF/MET pathwayMicroRNAHep G2 CellsHCCSModels TheoreticalPrognosisPersonalized medicinedigestive system diseases030104 developmental biologymedicine.anatomical_structureCancer researchSMARCA4biology.protein030211 gastroenterology & hepatologyTranscriptome
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The cytoprotective protein MANF promotes neuronal survival independently from its role as a GRP78 cofactor

2021

Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-stress-regulated protein exhibiting cytoprotective properties through a poorly understood mechanism in various in vitro and in vivo models of neuronal and non-neuronal damage. Although initially characterized as a secreted neurotrophic factor for midbrain dopamine neurons, MANF has recently gained more interest for its intracellular role in regulating the ER homeostasis, including serving as a cofactor of the chaperone glucose-regulated protein 78 (GRP78). We aimed for a better understanding of the neuroprotective mechanisms of MANF. Here we show for the first time that MANF promotes the survival of …

0301 basic medicineBiFC bimolecular fluorescence complementationMST microscale thermophoresisPDIA1 protein disulfide isomerase family A member 1ApoptosisNEUROTROPHIC FACTOR MANFEndoplasmic ReticulumBiochemistryprotein-protein interactionMiceBimolecular fluorescence complementationUPR unfolded protein responseENDOPLASMIC-RETICULUM STRESSMesencephalonNeurotrophic factorsInsulin-Secreting CellsProtein Interaction MappingBINDINGCOMPREHENSIVE RESOURCEATF6unfolded protein response (UPR)PDIA6 protein disulfide isomerase family A member 6PPIs protein-protein interactionsEndoplasmic Reticulum Chaperone BiPHeat-Shock ProteinsNPTN neuroplastinbiologyChemistryapoptosisunfolded protein responsedopamine neurons3. Good healthCell biologyGDNF glial cell line–derived neurotrophic factorIRE1-ALPHASBD substrate-binding domainendoplasmic reticulum stressMANF mesencephalic astrocyte-derived neurotrophic factorTm tunicamycinneuroprotectionResearch ArticleProtein BindingSignal TransductionGRP78Protein Disulfide-Isomerase FamilyCell SurvivalTH tyrosine hydroxylasePrimary Cell CultureSCG superior cervical ganglionProtein Disulfide-IsomerasesIRE1 inositol-requiring enzyme 1ER-STRESSER endoplasmic reticulum03 medical and health sciencesohjelmoitunut solukuolemaC-MANF C-terminal domain of MANFCSPs chemical shift perturbationsAnimalsHumansHSP70 Heat-Shock ProteinsNerve Growth FactorsNBD nucleotide-binding domainNMR nuclear magnetic resonanceMolecular Biology030102 biochemistry & molecular biologyBIPATF6Dopaminergic NeuronsGene Expression ProfilingBinding proteinneuronal cell deathDISSOCIATIONCell BiologyNEI nucleotide exchange inhibitorEmbryo MammalianadenosiinitrifosfaattiATPhermosolutmesencephalic astrocyte-derived neurotrophic factorprotein–protein interactionPERK protein kinase RNA-like ER kinaseHEK293 Cells030104 developmental biologyGene Expression RegulationChaperone (protein)Tg thapsigarginbiology.proteinUnfolded protein responseAP-MS affinity purification mass spectrometry1182 Biochemistry cell and molecular biologyGFP-SH SH-tagged GFPendoplasmic reticulum stress (ER stress)DA dopaminemesencephalic astrocyte-derived neurotrophic factor (MANF)proteiinitNeuroplastin
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Simultaneous lipidomic and transcriptomic profiling in mouse brain punches of acute epileptic seizure model compared to controls

2018

In this study, we report the development of a dual extraction protocol for RNA and lipids, including phospholipids, endocannabinoids, and arachidonic acid, at high spatial resolution, e.g., brain punches obtained from whole frozen brains corresponding to four brain subregions: dorsal hippocampus, ventral hippocampus, basolateral amygdala, and hypothalamus. This extraction method combined with LC/multiple reaction monitoring for lipid quantification and quantitative PCR for RNA investigation allows lipidomic and transcriptomic profiling from submilligram amounts of tissue, thus benefiting the time and animal costs for analysis and the data reliability due to prevention of biological variabil…

0301 basic medicineBiochemistryTranscriptomechemistry.chemical_compoundEpilepsyMice0302 clinical medicineEndocrinologyTEMPORAL-LOBE EPILEPSYResearch Articlesmass spectrometrymessenger ribonucleic acidKainic AcidBrainNEUROLOGICAL DISORDERSQUANTITATIVE-ANALYSISEndocannabinoid systemLipidsCell biologyReal-time polymerase chain reactionmedicine.anatomical_structureAcute DiseaseArachidonic acidEpileptic seizuremedicine.symptomACID-INDUCED SEIZURESQD415-436BiologyMEMBRANE PHOSPHOLIPIDSENDOCANNABINOID SYSTEM03 medical and health sciencesCYTOPLASMIC PHOSPHOLIPASE A(2)SeizuresmedicineAnimalsendocannabinoidsphospholipidsGene Expression ProfilingRNACell BiologyMASS-SPECTROMETRYmedicine.diseaseDisease Models Animal030104 developmental biologychemistrynervous systemepilepsyLYSOPHOSPHATIDIC ACID030217 neurology & neurosurgeryTERT-BUTYL ETHERBasolateral amygdala
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ALS-Related Mutant FUS Protein Is Mislocalized to Cytoplasm and Is Recruited into Stress Granules of Fibroblasts from Asymptomatic &lt;b&gt;&lt;i&gt;…

2017

&lt;b&gt;&lt;i&gt;Background:&lt;/i&gt;&lt;/b&gt; Amyotrophic lateral sclerosis (ALS) shows a strong genetic basis, with &lt;i&gt;SOD1&lt;/i&gt;, &lt;i&gt;FUS&lt;/i&gt;, &lt;i&gt;TARDBP&lt;/i&gt;, and &lt;i&gt;C9ORF72 &lt;/i&gt;being the genes most frequently involved&lt;i&gt;. &lt;/i&gt;This has allowed identification of asymptomatic mutation carriers, which may be of help in understanding the molecular changes preceding disease onset. &lt;b&gt;&lt;i&gt;Objectives:&lt;/i&gt;&lt;/b&gt; We studied the cellular expression of FUS protein and the effect of heat-shock- and dithiothreitol-induced stress in fibroblasts from &lt;i&gt;FUS&lt;/i&gt; P525L mutation carriers, healthy controls, and pati…

0301 basic medicineBiologymedicine.diseaseSubcellular localizationTARDBPMolecular biology03 medical and health sciencesCell nucleus030104 developmental biology0302 clinical medicineStress granulemedicine.anatomical_structureNeurologyC9orf72CytoplasmmedicineNeurology (clinical)Amyotrophic lateral sclerosis030217 neurology & neurosurgeryRNA-Binding Protein FUSNeurodegenerative Diseases
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Lipid peroxidation as measured by chromatographic determination of malondialdehyde. Human plasma reference values in health and disease

2021

Free radicals and oxidants are involved in physiological signaling pathways, although an imbalance between pro-oxidant and anti-oxidant systems in favor of the former leads to major biomolecular damage. This is the so-called oxidative stress, a complex process that affects us all and is responsible for the development of many diseases. Lipids are very sensitive to oxidant attack and to-date, malondialdehyde (MDA), 4-hydroxy-2-nonenal (4-HNE) and F2-isoprostane are the main biomarkers for lipid peroxidation assessment. They all derive from polyunsaturated fatty acids (PUFAs) either by enzyme-catalyzed reactions (physiological) or by non-enzyme reactions (pathological). The profile of PUFAs p…

0301 basic medicineBiophysicsDiseasemedicine.disease_causeBiochemistryLipid peroxidationPulmonary Disease Chronic Obstructive03 medical and health scienceschemistry.chemical_compoundReference ValuesMalondialdehydePhysiology (medical)Diabetes MellitusmedicineHumansExerciseMolecular BiologyChromatography High Pressure Liquidchemistry.chemical_classificationChromatographyFrailty030102 biochemistry & molecular biologyAge FactorsNeurodegenerative DiseasesMalondialdehydeOxidative Stress030104 developmental biologyBiochemistrychemistryHuman plasmaReference valuesBiomarker (medicine)Kidney DiseasesLipid PeroxidationSignal transductionBiomarkersOxidative stressPolyunsaturated fatty acidFree Radical Biology and Medicine
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