Search results for "AMA"

showing 10 items of 8558 documents

Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson–Gilford Progeria Syndrome

2019

Hutchinson–Gilford progeria syndrome (HGPS) is a genetic disorder characterized by premature aging features. Cells from HGPS patients express progerin, a truncated form of Lamin A, which perturbs cellular homeostasis leading to nuclear shape alterations, genome instability, heterochromatin loss, telomere dysfunction and premature entry into cellular senescence. Recently, we reported that telomere dysfunction induces the transcription of telomeric non-coding RNAs (tncRNAs) which control the DNA damage response (DDR) at dysfunctional telomeres. Here we show that progerin-induced telomere dysfunction induces the transcription of tncRNAs. Their functional inhibition by sequence-specific telomer…

0301 basic medicineGenome instabilityRNA UntranslatedDNA RepairGeneral Physics and AstronomyCellular homeostasisAntisense oligonucleotide therapyMice0302 clinical medicineProgeriaHomeostasislcsh:ScienceCellular SenescenceSkinProgeriaMultidisciplinaryintegumentary systemQTelomereProgerinLamin Type A3. Good healthCell biologyTelomeresPhenotypePremature agingcongenital hereditary and neonatal diseases and abnormalitiesDNA repairScienceDouble-strand DNA breaksBiologySettore MED/08 - Anatomia PatologicaGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health sciencesmedicineDNA damage Hutchinson-Gilford Progeria SyndromeAnimalsCell Proliferationnutritional and metabolic diseasesGeneral ChemistryOligonucleotides Antisensemedicine.diseaseTelomereDisease Models Animal030104 developmental biologyMutationlcsh:Q030217 neurology & neurosurgeryLaminDNA DamageNature Communications
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From “Cellular” RNA to “Smart” RNA: Multiple Roles of RNA in Genome Stability and Beyond

2018

Coding for proteins has been considered the main function of RNA since the "central dogma" of biology was proposed. The discovery of noncoding transcripts shed light on additional roles of RNA, ranging from the support of polypeptide synthesis, to the assembly of subnuclear structures, to gene expression modulation. Cellular RNA has therefore been recognized as a central player in often unanticipated biological processes, including genomic stability. This ever-expanding list of functions inspired us to think of RNA as a "smart" phone, which has replaced the older obsolete "cellular" phone. In this review, we summarize the last two decades of advances in research on the interface between RNA…

0301 basic medicineGenome instabilityRegulation of gene expressionRNA UntranslatedTranscription GeneticChemistryRNA-Binding ProteinsRNARNA-binding proteinGeneral ChemistryComputational biologyNon-coding RNAArticleGenomic Instability03 medical and health sciences030104 developmental biologyGene Expression RegulationTranscription (biology)RNA interferenceGene expressionHumans570 Life sciences; biologyDNA Breaks Double-StrandedRNA InterferenceDNA Damage
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FANCD2 modulates the mitochondrial stress response to prevent common fragile site instability

2021

Common fragile sites (CFSs) are genomic regions frequently involved in cancer-associated rearrangements. Most CFSs lie within large genes, and their instability involves transcription- and replication-dependent mechanisms. Here, we uncover a role for the mitochondrial stress response pathway in the regulation of CFS stability in human cells. We show that FANCD2, a master regulator of CFS stability, dampens the activation of the mitochondrial stress response and prevents mitochondrial dysfunction. Genetic or pharmacological activation of mitochondrial stress signaling induces CFS gene expression and concomitant relocalization to CFSs of FANCD2. FANCD2 attenuates CFS gene transcription and pr…

0301 basic medicineGenome instabilitymusculoskeletal diseasesTranscription GeneticQH301-705.5RegulatorMedicine (miscellaneous)MitochondrionBiology[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyGeneral Biochemistry Genetics and Molecular BiologyOxidative PhosphorylationArticle03 medical and health sciences0302 clinical medicineTranscription (biology)Stress Physiologicalhemic and lymphatic diseasesGene expressionFANCD2HumansBiology (General)GeneUbiquitinsChromosomal fragile siteChromosome Fragile SitesChromosome FragilityFanconi Anemia Complementation Group D2 ProteinDNA damage and repair[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyHCT116 CellsCell biologyMitochondriaSettore BIO/18 - Genetica030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisUnfolded Protein ResponseGeneral Agricultural and Biological SciencesDNA Damage
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Dicer prevents genome instability in response to replication stress

2019

Dicer, an endoribonuclease best-known for its role in microRNA biogenesis and RNA interference pathway, has been shown to play a role in the DNA damage response and repair of double-stranded DNA breaks (DSBs) in mammalian cells. However, it remains unknown whether Dicer is also important to preserve genome integrity upon replication stress. To address this question, we focused our study on common fragile sites (CFSs), which are susceptible to breakage after replication stress. We show that inhibition of the Dicer pathway leads to an increase in CFS expression upon induction of replication stress and to an accumulation of 53BP1 nuclear bodies, indicating transmission of replication-associate…

0301 basic medicineGenome instabilityreplication stressDNA damageChromosomal fragile siteBiologygenomic instabilitycommon fragile siteCell biologySettore BIO/18 - Genetica03 medical and health sciences030104 developmental biology0302 clinical medicineOncology030220 oncology & carcinogenesisFANCD2biology.proteinDicer PathwayMitosiscommon fragile sitesDroshaResearch PaperDicerDicerOncotarget
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Effects of ibuprofen and carbamazepine on the ion transport system and fatty acid metabolism of temperature conditioned juveniles of Solea senegalens…

2018

The increasing presence of pharmaceuticals in aquatic environments in the last decades, derived from human and veterinary use, has become an important environmental problem. Previous studies have shown that ibuprofen (IB) and carbamazepine (CBZ) modify physiological and biochemical processes in Senegalese sole (Solea senegalensis) in a temperature-dependent manner. In other vertebrates, there is evidence that both of these pharmaceuticals interfere with the ‘arachidonic acid (AA) cascade’, which is responsible for the biosynthesis of numerous enzymes that are involved in the osmoregulatory process. The present work aims to study the temperature-dependent effects of these two pharmaceuticals…

0301 basic medicineGillGillsHealth Toxicology and MutagenesisATPaseAcclimatizationIbuprofen010501 environmental sciencesKidney01 natural scienceschemistry.chemical_compoundOsmoregulationProtein IsoformsIntestinal MucosaNa+ K+ -ATPasebiologyFatty AcidsTemperatureGeneral MedicineWater-Electrolyte BalancePollutionEicosapentaenoic acidIntestinesCarbamazepineBiochemistryOsmoregulationFlatfishesPharmaceuticalsArachidonic acidSodium-Potassium-Exchanging ATPasemedicine.medical_specialtyBiochemical Phenomena03 medical and health sciencesInternal medicinemedicineAnimalsNa+/K+-ATPaseFatty acids0105 earth and related environmental sciencesIon TransportFatty acid metabolismMarinePublic Health Environmental and Occupational HealthLipid MetabolismEnzyme assay030104 developmental biologyEndocrinologyFishchemistryProstaglandin-Endoperoxide Synthasesbiology.proteinWater Pollutants ChemicalEcotoxicology and environmental safety
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Piriform cortex alterations in the Ts65Dn model for down syndrome

2020

The piriform cortex is involved in olfactory information processing, that is altered in Down Syndrome. Moreover, piriform cortex has a crucial involvement in epilepsy generation and is one of the first regions affected in Alzheimer's Disease, both maladies being prevalent among Down Syndrome individuals. In this work, we studied the alterations in neuronal morphology, synaptology and structural plasticity in the piriform cortex of the Ts65Dn mouse model, which is the most used model for the study of this syndrome and mimics some of their alterations. We have observed that Ts65Dn piriform cortex displays: a reduction in dendritic arborisation, a higher density of inhibitory synapses (GAD67),…

0301 basic medicineGlutamate decarboxylasePresynaptic TerminalsMice TransgenicPiriform CortexInhibitory postsynaptic potentialMice03 medical and health sciences0302 clinical medicineAtrophyPostsynaptic potentialPiriform cortexmedicineNeuropilAnimalsMolecular BiologyNeuronsGephyrinbiologyGlutamate DecarboxylaseGeneral NeuroscienceMembrane Proteinsmedicine.disease030104 developmental biologymedicine.anatomical_structurenervous systemVesicular Glutamate Transport Protein 1biology.proteinExcitatory postsynaptic potentialNeurology (clinical)Down SyndromeNeuroscience030217 neurology & neurosurgeryDevelopmental BiologyBrain Research
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Oligodendrocytes Support Neuronal Glutamatergic Transmission via Expression of Glutamine Synthetase.

2019

Summary: Glutamate has been implicated in a wide range of brain pathologies and is thought to be metabolized via the astrocyte-specific enzyme glutamine synthetase (GS). We show here that oligodendrocytes, the myelinating glia of the central nervous system, also express high levels of GS in caudal regions like the midbrain and the spinal cord. Selective removal of oligodendrocyte GS in mice led to reduced brain glutamate and glutamine levels and impaired glutamatergic synaptic transmission without disrupting myelination. Furthermore, animals lacking oligodendrocyte GS displayed deficits in cocaine-induced locomotor sensitization, a behavior that is dependent on glutamatergic signaling in th…

0301 basic medicineGlutamineCentral nervous systemNeurotransmissionBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleMidbrain03 medical and health sciencesGlutamatergic0302 clinical medicineGlutamate-Ammonia LigaseGlutamine synthetasemedicineAnimalslcsh:QH301-705.5Glutamate receptorBrainOligodendrocyteCell biologyGlutamineOligodendroglia030104 developmental biologymedicine.anatomical_structurenervous systemlcsh:Biology (General)030217 neurology & neurosurgerySignal TransductionCell reports
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Role of the DNA repair glycosylase OGG1 in the activation of murine splenocytes

2017

OGG1 (8-oxoguanine-DNA glycosylase) is the major DNA repair glycosylase removing the premutagenic DNA base modification 8-oxo-7,8-dihydroguanine (8-oxoG) from the genome of mammalian cells. In addition, there is accumulating evidence that OGG1 and its substrate 8-oxoG might function in the regulation of certain genes, which could account for an attenuated immune response observed in Ogg1-/- mice in several settings. Indications for at least two different mechanisms have been obtained. Thus, OGG1 could either act as an ancillary transcription factor cooperating with the lysine-specific demethylase LSD1 or as an activator of small GTPases. Here, we analysed the activation by lipopolysaccaride…

0301 basic medicineGuanineDNA RepairDNA repairp38 mitogen-activated protein kinasesBiologyBiochemistryDNA GlycosylasesMice03 medical and health sciencesAnimalsMolecular BiologyTranscription factorTumor Necrosis Factor-alphaKinaseActivator (genetics)MacrophagesDNACell BiologyBase excision repairMolecular biology030104 developmental biologyGene Expression RegulationDNA glycosylaseTumor necrosis factor alphaSpleenDNA DamageTranscription FactorsDNA Repair
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Free energy profiles for two ubiquitous damaging agents: methylation and hydroxylation of guanine in B-DNA

2017

International audience; DNA methylation and hydroxylation are two ubiquitous reactions in DNA damage induction, yet insights are scarce concerning the free energy of activation within B-DNA. We resort to multiscale simulations to investigate the attack of a hydroxyl radical and of the primary diazonium onto a guanine embedded in a solvated dodecamer. Reaction free energy profiles characterize two strongly exergonic processes, yet allow unprecedented quantification of the barrier towards this damage reaction, not higher than 6 kcal mol−1 and sometimes inexistent, and of the exergonicities. In the case of the [G(C8)-OH]˙ intermediate, we challenge the functional dependence of such simulations…

0301 basic medicineGuanineGuanineDNA damageStereochemistryEntropyGeneral Physics and Astronomy010402 general chemistryHydroxylation01 natural sciencesHydroxylation03 medical and health scienceschemistry.chemical_compoundComputational chemistry[CHIM.ANAL]Chemical Sciences/Analytical chemistryPhysical and Theoretical ChemistryExergonic reactionchemistry.chemical_classificationHydroxyl RadicalBiomoleculeDNA Methylation0104 chemical sciences030104 developmental biologychemistryEnergy TransferDNA methylationHydroxyl radicalDNA B-Form[CHIM.RADIO]Chemical Sciences/RadiochemistryDNA
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MicroRNA-33b Suppresses Epithelial-Mesenchymal Transition Repressing the MYC-EZH2 Pathway in HER2+ Breast Carcinoma

2020

Downregulation of miR-33b has been documented in many types of cancers and is being involved in proliferation, migration, and epithelial-mesenchymal transition (EMT). Furthermore, the enhancer of zeste homolog 2-gene (EZH2) is a master regulator of controlling the stem cell differentiation and the cell proliferation processes. We aim to evaluate the implication of miR-33b in the EMT pathway in HER2+ breast cancer (BC) and to analyze the role of EZH2 in this process as well as the interaction between them. miR-33b is downregulated in HER2+ BC cells vs healthy controls, where EZH2 has an opposite expression in vitro and in patients' samples. The upregulation of miR-33b suppressed proliferatio…

0301 basic medicineHER2+Mama ExamenCancer ResearchmiRNA-33bCellular differentiationVimentinMYCmacromolecular substanceslcsh:RC254-28203 medical and health sciences0302 clinical medicinebreast cancerDownregulation and upregulationmicroRNAGene silencingEpithelial–mesenchymal transitionEZH2CàncerbiologyCell growthChemistryEZH2EMTlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens030104 developmental biologyOncology030220 oncology & carcinogenesisbiology.proteinCancer research
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