Search results for "degeneration"

showing 10 items of 601 documents

Antioxidants as treatment for neurodegenerative disorders.

2002

Oxidative stress is a ubiquitously observed hallmark of neurodegenerative disorders. Neuronal cell dysfunction and cell death due to oxidative stress may causally contribute to the pathogenesis of progressive neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease, as well as acute syndromes of neurodegeneration, such as ischaemic and haemorrhagic stroke. Neuroprotective antioxidants are considered a promising approach to slowing the progression and limiting the extent of neuronal cell loss in these disorders. The clinical evidence demonstrating that antioxidant compounds can act as protective drugs in neurodegenerative disease, however, is still relatively scarce. …

PharmacologyPathologymedicine.medical_specialtyParkinson's diseaseFree Radicalsbusiness.industryNeurodegenerationNeurodegenerative DiseasesGeneral MedicineDiseasemedicine.diseaseBioinformaticsmedicine.disease_causeNeuroprotectionAntioxidantsDrug developmentHuntington's diseaseMedicineAnimalsHumansPharmacology (medical)Amyotrophic lateral sclerosisbusinessOxidative stressExpert opinion on investigational drugs
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Ocular angiogenesis: translating preclinical indications to successful clinical development

2004

Angiogenesis-related ocular diseases such as age-related macular degeneration (AMD) or diabetic retinopathy have a high socioeconomic impact in western countries and are the leading causes of blindness. Conventional treatment modalities for AMD are of limited success. Inhibition of new vessel formation and targeting of pathological vessels seem to be the best choice in AMD. A variety of animal models mimic the relevant aspects of choroidal neovascularisation (CNV) and allow for therapy screening. Preclinical and clinical studies show that a variety of different strategies are very promising. Stategies include inhibition or blocking of vascular endothelial growth factor, a key player in angi…

PharmacologyPathologymedicine.medical_specialtygenetic structuresbusiness.industryAngiogenesisGenetic enhancementClinical BiochemistryConventional treatmentDiabetic retinopathyOcular angiogenesisMacular degenerationmedicine.diseaseBioinformaticseye diseasesVascular endothelial growth factorchemistry.chemical_compoundchemistryDrug DiscoverymedicineMolecular Medicinesense organsbusinessPathologicalExpert Opinion on Therapeutic Targets
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Membrane breakdown in acute and chronic neurodegeneration: focus on choline-containing phospholipids.

2000

Breakdown of cellular membranes is a characteristic feature of neuronal degeneration in acute (stroke) and chronic (senile dementia) neurological disorders. The present review summarizes recent experimental and clinical work which concentrated on changes of choline-containing phospholipids as indicators of neuronal membrane breakdown. Experimental studies identified glutamate release, calcium influx, and activation of cellular phospholipase A2 (PLA2) as important steps initiating membrane breakdown in cultured neurons or brain slices under hypoxic or ischemic conditions. Proton NMR studies have shown an elevation of choline-containing compounds in the brain of Alzheimer patients while neuro…

PhospholipidPhospholipasechemistry.chemical_compoundNeurochemicalPhospholipase A2PhosphatidylcholinemedicineCholineAnimalsHumansBiological PsychiatrybiologyChemistryNeurodegenerationCell MembraneGlutamate receptorNeurodegenerative Diseasesmedicine.diseasePsychiatry and Mental healthNeurologyBiochemistryAcute DiseaseChronic Diseasebiology.proteinPhosphatidylcholinesNeurology (clinical)Journal of neural transmission (Vienna, Austria : 1996)
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AAV-Mediated Clarin-1 Expression in the Mouse Retina: Implications for USH3A Gene Therapy

2015

Usher syndrome type III (USH3A) is an autosomal recessive disorder caused by mutations in clarin-1 (CLRN1) gene, leading to progressive retinal degeneration and sensorineural deafness. Efforts to develop therapies for preventing photoreceptor cell loss are hampered by the lack of a retinal phenotype in the existing USH3 mouse models and by conflicting reports regarding the endogenous retinal localization of clarin-1, a transmembrane protein of unknown function. In this study, we used an AAV-based approach to express CLRN1 in the mouse retina in order to determine the pattern of its subcellular localization in different cell types. We found that all major classes of retinal cells express AAV…

Photoreceptors0301 basic medicineRetinal degenerationSensory ReceptorsPhysiologyUsher syndromeCell Membraneslcsh:MedicineSocial SciencesNervous SystemPhotoreceptor cellMicechemistry.chemical_compound0302 clinical medicineAnimal CellsMedicine and Health SciencesPsychologylcsh:ScienceNeuronsRegulation of gene expressionGeneticsMultidisciplinaryRetinal DegenerationAnimal ModelsDependovirusCell biologyElectrophysiologymedicine.anatomical_structureSensory PerceptionCellular TypesAnatomyCellular Structures and OrganellesUsher SyndromesResearch ArticleSignal TransductionCell typeImaging TechniquesOcular AnatomyNeurophysiologyOuter plexiform layerMouse ModelsBiologyResearch and Analysis MethodsRetina03 medical and health sciencesModel OrganismsOcular SystemFluorescence ImagingmedicineAnimalsHumansRetinalcsh:RMembrane ProteinsBiology and Life SciencesAfferent NeuronsRetinalGenetic TherapyCell Biologymedicine.diseaseDisease Models Animal030104 developmental biologyGene Expression RegulationchemistrySynapsesEyeslcsh:QHead030217 neurology & neurosurgeryNeurosciencePLOS ONE
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Physiological,anatomical and biomass partitioning responses to ozone in the Mediterranean endemic plant Lamottea dianae

2011

Ozone effects on the perennial forb Lamottea dianae were studied in an open-top chamber experiment. Ozone was found to induce reductions in CO 2 assimilation and water use efficiency in the leaves of this species. These reductions were mainly related to a decline in the in vivo CO 2 fixation capacity of Rubisco (V c,max), rather than to stomatal limitations or photoinhibitory damage (F v:F m). In addition to chloroplast degeneration, other observed effects were callose accumulation, formation of pectinaceous wart-like cell wall exudates and phloem alterations. Moreover, ozone exposure significantly reduced root dry biomass. The possible relevance of these adverse effects for Mediterranean f…

Plant water useChlorophyllPhotoinhibitionEndemic plantsRubiscoSouthern EuropeChloroplastsPerennial plantPhysiological processHealth Toxicology and MutagenesisEnvironmental stressAsteraceaeEnvironmental protectionPlant RootsEnvironmental impactchemistry.chemical_compoundAnatomical variationIn vivo studyPhysiological responseBiomassPhotosynthesisBiomass partitioningBIOLOGIA VEGETALfood and beveragesGeneral MedicinePollutionPollenBiomass partitioningAnatomyStomatal conductanceCarbon dioxide fixationBOTANICAStomatal conductanceBiologyPhloemPhotosynthesisArticleAdverse outcomeOzoneLamottea dianaeBiomass allocationBotanyPhotoinhibitionSpecies conservationCalloseRuBisCOPlant damagePublic Health Environmental and Occupational HealthWater use efficiencyPlant exudatePlantNonhumanPlant LeaveschemistryCarbon dioxideOxidative stressSpainbiology.proteinDegenerationPhloemEndemic speciesRisk factorControlled study
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Computational Analysis of Clinical and Molecular Markers and New Theranostic Possibilities in Primary Open-Angle Glaucoma

2020

Primary open-angle glaucoma (POAG) is a paramount cause of irreversible visual disability worldwide. We focus on identifying clinical and molecular facts that may help elucidating the pathogenic mechanisms of the disease. By using ophthalmological approaches (biomicroscopy, ocular fundus, optical coherence tomography, and perimetry) and experimental tests (enzyme-linked immunosorbent assay (ELISA), high performance liquid chromatography (HPLC), and Western blot/immunoblotting) directed to evaluate the oxidative stress, inflammation, apoptosis, and neurodegeneration processes, we gather information to build a network of data to perform a computational bioinformatics analysis. Our results sho…

Posterior Eye Segmentmedicine.medical_specialtytheranosticsprimary open-angle glaucomaOpen angle glaucomagenetic structuresGlaucomalcsh:MedicineVisual disabilityDiseaseArticlePathogenesis03 medical and health sciences0302 clinical medicineOphthalmologymedicineoxidative stressComputational analysisbusiness.industrypathogenesisNeurodegenerationlcsh:RapoptosisneurodegenerationGeneral Medicinemedicine.diseaseeye diseasesinflammation030221 ophthalmology & optometrysense organsbusiness030217 neurology & neurosurgeryJournal of Clinical Medicine
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A new method to isolate microglia from adult mice and culture them for an extended period of time

2009

As the major immuno-competent cells of the brain, microglia are highly implicated in neuro-protection as well as in neurodegeneration. Therefore, they are of key interest for research on numerous CNS diseases. Currently, to model inflammation in the brain, microglial cell lines or primary microglia prepared from embryonic or neo-natal rodents are widely used. However, these in vitro microglial models are not suitable for research in the field of neuro-degenerative diseases where aging is a crucial parameter. Only a few in vitro studies on aged microglia have been published so far, most of which use ex vivo microglia which cannot be kept in culture for prolonged periods of time. In the prese…

Potassium Channelsmedicine.medical_treatmentPopulationFluorescent Antibody TechniqueInflammationCell SeparationBiologyNitric OxideCell LineMicePhagocytosismedicineAnimalseducationCells Culturededucation.field_of_studyMicrogliaGeneral NeuroscienceCell MembraneNeurodegenerationFlow Cytometrymedicine.diseaseEmbryonic stem cellIn vitroElectrophysiologyMice Inbred C57BLCytokinemedicine.anatomical_structureAnimals NewbornCytokinesFemaleMicrogliamedicine.symptomNeuroscienceEx vivoJournal of Neuroscience Methods
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De Novo prion aggregates trigger autophagy in skeletal muscle

2014

ABSTRACT In certain sporadic, familial, and infectious prion diseases, the prion protein misfolds and aggregates in skeletal muscle in addition to the brain and spinal cord. In myocytes, prion aggregates accumulate intracellularly, yet little is known about clearance pathways. Here we investigated the clearance of prion aggregates in muscle of transgenic mice that develop prion disease de novo . In addition to neurodegeneration, aged mice developed a degenerative myopathy, with scattered myocytes containing ubiquitinated, intracellular prion inclusions that were adjacent to myocytes lacking inclusions. Myocytes also showed elevated levels of the endoplasmic reticulum chaperone Grp78/BiP, su…

PrionsAutophagosome maturationanimal diseasesBlotting WesternImmunologyMice TransgenicBiologyProtein degradationPolymerase Chain ReactionMedical and Health SciencesMicrobiologyTransgenicPrion DiseasesMiceVirologyAutophagymedicineAnimalsMyocyteMuscle SkeletalEndoplasmic Reticulum Chaperone BiPHeat-Shock ProteinsDNA PrimersMuscle CellsAgricultural and Veterinary SciencesBlottingEndoplasmic reticulumNeurodegenerationAutophagySkeletal muscleSkeletalBiological Sciencesmedicine.diseaseImmunohistochemistryMolecular biologynervous system diseasesmedicine.anatomical_structureInsect ScienceChaperone (protein)biology.proteinMuscleWestern
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High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

2021

ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-seven probands with various progressive neurological disorders (cerebellar ataxias, neuromuscular disorders, spastic paraplegias, movement disorders and individuals with complex phenotypes labelled ‘other’) were recruited over a 4-year period regardless of their age, gender, familial history and clinical framework. Individuals could have had prior genetic tests as long as it was not cES. cES was performed in a proband-only (60/67) or trio (7/67) st…

ProbandPediatricsmedicine.medical_specialtyMovement disordersNeurologyNeurodegeneration with brain iron accumulation[SDV]Life Sciences [q-bio]EncephalopathyNeurogenetics03 medical and health sciences0302 clinical medicineExome SequencingGeneticsHumansMedicineExomeClinical significance030212 general & internal medicineGenetic TestingGenetics (clinical)Exome sequencingComputingMilieux_MISCELLANEOUS030304 developmental biology0303 health sciencesbusiness.industrymedicine.diseasePhenotypeNeurology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Neurology (clinical)Nervous System Diseasesmedicine.symptombusiness030217 neurology & neurosurgery
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Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in Spinocerebellar ataxia 7 mouse retina

2010

In neurodegenerative disorders caused by polyglutamine (polyQ) expansion, polyQ toxicity is thought to trigger a linear cascade of successive degenerative events leading to neuronal death. To understand how neurons cope with polyQ toxicity, we studied a Spinocerebellar ataxia 7 (SCA7) mouse which expresses polyQ-expanded ATXN7 only in rod photoreceptors. We show that in response to polyQ toxicity, SCA7 rods go through a range of radically different cell fates, including apoptotic and non-apoptotic cell death, cell migration, morphological transformation into a round cell or, most remarkably, cell division. The temporal profile of retinal remodeling indicates that some degenerative pathways …

Programmed cell deathCell divisionProliferationPopulationMice TransgenicNerve Tissue ProteinsBiologylcsh:RC321-571Mice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCell MovementRetinal Rod Photoreceptor CellsmedicineAnimalsSpinocerebellar AtaxiasNeurodegenerationeducationlcsh:Neurosciences. Biological psychiatry. NeuropsychiatryCell ShapeComputingMilieux_MISCELLANEOUSSpinocerebellar ataxia 7030304 developmental biologyAtaxin-7Mice Knockout0303 health sciencesRetinaeducation.field_of_studyPhotoreceptorCell DeathRetinal DegenerationNeurodegenerationRetinalmedicine.diseaseRemodelingMice Inbred C57BLmedicine.anatomical_structureNeurologyProteotoxicitychemistryNerve DegenerationSpinocerebellar ataxia[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Apoptosis Regulatory ProteinsPeptidesPolyglutamineNeuroscience030217 neurology & neurosurgery
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