0000000000242790

AUTHOR

Maria Adelaida Garcia-gimeno

showing 5 related works from this author

Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration

2020

Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying …

0301 basic medicineAtaxiaUnverricht–Lundborg disease (ULD)PhysiologyNeurodegeneration with brain iron accumulationClinical BiochemistryFriedreich’s ataxiaReviewmedicine.disease_causeBioinformaticsBiochemistry03 medical and health scienceschemistry.chemical_compoundLafora disease (LD)0302 clinical medicineMedicineprogressive myoclonus epilepsy (PME)Molecular BiologyNeuroinflammationReactive nitrogen speciesneurodegenerative disorders with brain iron accumulation (NBIA)business.industryNeurodegenerationlcsh:RM1-950NeurotoxicityCell Biologymedicine.diseaseDravet syndromeCharcot-Marie-Tooth disease (CMT)030104 developmental biologylcsh:Therapeutics. Pharmacologychemistrymedicine.symptombusinessMyoclonusinherited retinal dystrophy (IRD)030217 neurology & neurosurgeryOxidative stressAntioxidants
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Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.

2020

Postprint 36 páginas, 7 figuras

0301 basic medicineArrestinsAmino Acid Transport System X-AGPhosphataseProgressive myoclonus epilepsyBiologyEndocytosisLafora diseaseArticle03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineUbiquitinmedicineAnimalsNedd4.2Lafora diseaseGlutamate receptorUbiquitinationTransportermedicine.diseaseProtein Tyrosine Phosphatases Non-ReceptorEndocytosisCell biologyGLT-1030104 developmental biologyNeurologyLafora Diseasebiology.proteinGlutamateLaforin030217 neurology & neurosurgeryGlia
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Synergistic activation of AMPK prevents from polyglutamine-inducedtoxicity inCaenorhabditis elegans

2020

11 páginas, 4 figuras. Supplementary material related to this article can be found, in the online version, at doi: https://doi.org/10.1016/j.phrs.2020.105105.

0301 basic medicineAMPKProtein subunitMutantEnzyme ActivatorsAMP-Activated Protein KinasesProtein Serine-Threonine KinasesProtein Aggregation PathologicalpolyQ toxicityArticleAnimals Genetically ModifiedProtein Aggregates03 medical and health sciences0302 clinical medicineRNA interferenceAutophagymedicineAnimalsAMPK Caenorhabditis elegans Metformin Salycilate Synergy polyQ toxicityCaenorhabditis elegans ProteinsCaenorhabditis elegansLoss functionCaenorhabditis elegansNeuronsPharmacologybiologyChemistrySalycilateAutophagyAMPKDrug Synergismbiology.organism_classificationSalicylatesMetforminCell biologyMetforminEnzyme ActivationSynergy030104 developmental biology030220 oncology & carcinogenesisMutationProteostasisPeptidesmedicine.drug
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Studying Closed Hydrodynamic Models of "In Vivo" DNA Perfusion in Pig Liver for Gene Therapy Translation to Humans.

2016

17 páginas, 6 figuras. En la versión online contiene 3 figuras y 1 tabla en información suplemetaria

Male0301 basic medicineSwineCardiovascular ProceduresGenetic enhancementProtein ExpressionCellGene ExpressionMetal Nanoparticleslcsh:MedicineVascular SurgeryBiochemistryTranslational Research BiomedicalMice0302 clinical medicinePig ModelsGene expressionMedicine and Health SciencesTransgeneslcsh:ScienceMammalsMultidisciplinaryPhysicsGene Transfer TechniquesClassical MechanicsAgricultureAnimal ModelsPerfusionmedicine.anatomical_structureLivermedicine.veinOrgan SpecificityNaked DNA030220 oncology & carcinogenesisVertebratesPhysical SciencesFemalePerfusionPlasmidsResearch ArticleLivestockSurgical and Invasive Medical ProceduresFluid MechanicsBiologyGene deliveryResearch and Analysis MethodsContinuum MechanicsInferior vena cavaCatheterizationGene Delivery03 medical and health sciencesModel OrganismsIn vivoGene Expression and Vector TechniquesmedicineAnimalsHumansMolecular Biology TechniquesMolecular BiologyMolecular Biology Assays and Analysis TechniquesPlasma Proteinslcsh:ROrganismsBiology and Life SciencesProteinsFluid DynamicsDNAGenetic TherapyMolecular biology030104 developmental biologyalpha 1-AntitrypsinAmniotesHydrodynamicslcsh:QGoldPLoS ONE
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An Attachment-Independent Biochemical Timer of the Spindle Assembly Checkpoint.

2017

The spindle assembly checkpoint (SAC) generates a diffusible protein complex that prevents anaphase until all chromosomes are properly attached to spindle microtubules. A key step in SAC initiation is the recruitment of MAD1 to kinetochores, which is generally thought to be governed by the microtubule-kinetochore (MT-KT) attachment status. However, we demonstrate that the recruitment of MAD1 via BUB1, a conserved kinetochore receptor, is not affected by MT-KT interactions in human cells. Instead, BUB1:MAD1 interaction depends on BUB1 phosphorylation, which is controlled by a biochemical timer that integrates counteracting kinase and phosphatase effects on BUB1 into a pulse-generating incohe…

0301 basic medicineMad1KinetochoreBUB1Nuclear ProteinsCell Cycle ProteinsCell BiologySpindle ApparatusBiologyProtein Serine-Threonine KinasesCell biologySpindle apparatus03 medical and health sciencesSpindle checkpoint030104 developmental biology0302 clinical medicineHEK293 CellsHumansTimerKinetochoresMolecular BiologyMitosis030217 neurology & neurosurgeryAnaphaseHeLa CellsMolecular cell
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