Search results for "Degeneration"

showing 10 items of 601 documents

Astrocytic alterations in interleukin-6/Soluble interleukin-6 receptor alpha double-transgenic mice.

2000

Interleukin-6 (IL-6), a major cytokine with diverse effects on cells mainly of the immune and hematopoietic systems, has been linked to several neurological disorders such as acquired immune deficiency syndrome dementia, multiple sclerosis, and Alzheimer's disease. Central nervous system (CNS)-specific expression of IL-6 caused neurodegeneration, massive gliosis, and vascular proliferation in transgenic mice. However, the effects of systemically circulating IL-6 and its receptor IL-6Ralpha on the CNS are unknown. IL-6Ralpha is the specific component of the IL-6 receptor system and hence an important co-factor of IL-6. IL-6Ralpha is bioactive in a membrane-bound and in a soluble (s) form. We…

Genetically modified mouseCentral Nervous SystemPathologymedicine.medical_specialtyTransgeneCentral nervous systemGene ExpressionMice TransgenicBiologyPathology and Forensic MedicineMicemedicineAnimalsHumansTransgenesReceptorInterleukin 6Interleukin-6NeurodegenerationBrainmedicine.diseaseReceptors Interleukin-6Astrogliosismedicine.anatomical_structurePhenotypeGliosisSolubilityAstrocytesbiology.proteinmedicine.symptomRegular ArticlesThe American journal of pathology
researchProduct

P08 Analysis of Nrf2-downstream targets after fumarate treatment in dorsal root ganglia—an anti-inflammatory therapy in neurodegenerative disease?!

2012

Background Dimethylfumarate (DMF) is a new disease modifying therapy. Several studies have shown convincing data after DMF therapy in both autoimmune inflammatory diseases and neurodegenerative disorders like Huntington9s disease (HD). DMF exerts neuroprotective effects via induction of the nuclear factor E2-related factor 2 (Nrf2) and detoxification pathways. Although the exact mechanisms that lead to neurodegeneration are not fully understood the contribution of oxidative stress inducing neurodegeneration is assumed. Aims To analyse the effects of DMF on axonal growth and regeneration and to describe the influence of DMF on the Nrf2-pathway. Methods/techniques We thus investigated the eff…

Genetically modified mousePathologymedicine.medical_specialtySide effectbusiness.industrymedicine.drug_classRegeneration (biology)NeurodegenerationPharmacologymedicine.diseasemedicine.disease_causeNeuroprotectionAnti-inflammatoryPsychiatry and Mental healthImmunohistochemistryMedicineSurgeryNeurology (clinical)businessOxidative stressJournal of Neurology, Neurosurgery & Psychiatry
researchProduct

Effects of neuron-specific ADAM10 modulation in an in vivo model of acute excitotoxic stress.

2008

A disintegrin and metalloprotease (ADAM) 10 is the main candidate enzyme for the alpha-secretase processing of the amyloid precursor protein (APP). Neuron-specific ADAM10 overexpression proved beneficial in the APP[V717I] mutant Alzheimer mouse model [Postina R, Schroeder A, Dewachter I, Bohl J, Schmitt U, Kojro E, Prinzen C, Endres K, Hiemke C, Blessing M, Flamez P, Dequenne A, Godaux E, van Leuven F, Fahrenholz F (2004) A disintegrin-metalloproteinase prevents amyloid plaque formation and hippocampal defects in an Alzheimer disease mouse model. J Clin Invest 113:1456-1464]. Since Alzheimer patients have a high prevalence for epileptic seizures, we investigated the effects of ADAM10 modula…

Genetically modified mousemedicine.medical_specialtyIndolesADAM10TransgeneExcitotoxicityMice Transgenicmedicine.disease_causeNeuroprotectionHippocampusADAM10 ProteinAmyloid beta-Protein PrecursorMiceLeucineSeizuresStress PhysiologicalInternal medicineGlial Fibrillary Acidic ProteinmedicineAmyloid precursor proteinAnimalsNeuroinflammationNeuronsAnalysis of VarianceKainic AcidbiologyCell DeathDose-Response Relationship DrugChemistryGeneral NeuroscienceNeurodegenerationMembrane ProteinsValinemedicine.diseaseADAM ProteinsDisease Models AnimalEndocrinologyGene Expression RegulationMutationbiology.proteinAmyloid Precursor Protein SecretasesPlant LectinsNeuroscienceNeuroscience
researchProduct

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

2013

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…

GenotypePhosphataseMicrognathismMolecular Sequence DataLimb Deformities CongenitalMutation MissenseBiologyCompound heterozygositymedicine.disease_causeFrameshift mutation03 medical and health sciencesMice0302 clinical medicinePhosphatidylinositol PhosphatesEctodermal DysplasiaReportmedicineGeneticsMissense mutationAnimalsHumansExomeGenetic Predisposition to DiseaseGenetics(clinical)Yunis–Varon syndromeFrameshift MutationGenetics (clinical)030304 developmental biology0303 health sciencesMutationBone DevelopmentBase SequenceFlavoproteinsNeurodegenerationSequence Analysis DNAFibroblastsmedicine.diseaseMolecular biologyPhenotypePhosphoric Monoester HydrolasesCleidocranial Dysplasia030217 neurology & neurosurgeryThe American Journal of Human Genetics
researchProduct

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

2015

The unconventional myosin VI, a member of the actin-based motor protein family of myosins, is expressed in the retina. Its deletion was previously shown to reduce amplitudes of the a- and b-waves of the electroretinogram. Analyzing wild-type and myosin VI-deficient Snell’s Waltzer mice in more detail, the expression pattern of myosin VI in retinal pigment epithelium, outer limiting membrane, and outer plexiform layer could be linked with differential progressing ocular deficits. These encompassed reduced a-waves and b-waves and disturbed oscillatory potentials in the electroretinogram, photoreceptor cell death, retinal microglia infiltration, and formation of basal laminar deposits. A pheno…

Genotypegenetic structuresOuter retinaTranslocator protein TSPOOuter plexiform layermacromolecular substancesBiologyRetinaPhotoreceptor cellMouse modelStereociliaMacular DegenerationMiceCellular and Molecular Neurosciencechemistry.chemical_compoundOptic Nerve DiseasesMyosinmedicineAnimalsBipolar cellMolecular BiologyPharmacologyRetinaRetinal pigment epitheliumMyosin Heavy ChainsNeurodegenerationInner retinaChoriocapillarisRetinalCell BiologyAnatomyMacular degenerationmedicine.diseaseSynapseeye diseasesCell biologyMice Inbred C57BLmedicine.anatomical_structurechemistryMolecular MedicineMicrogliasense organsGene DeletionResearch ArticlePhotoreceptor Cells VertebrateCellular and Molecular Life Sciences
researchProduct

Oxidative stress and its downstream signaling in aging eyes

2014

María Dolores Pinazo-Durán,1,* Roberto Gallego-Pinazo,2,* Jose Javier García-Medina,1,3,* Vicente Zanón-Moreno,1,4 Carlo Nucci,5 Rosa Dolz-Marco,2 Sebastián Martínez-Castillo,2 Carmen Galbis-Estrada,1 Carla Marco-Ramírez,1 Maria Isabel López-Gálvez,6,* David J Galarreta,6,* Manuel Díaz-Llópis4,*1Ophthalmic Research Unit "Santiago Grisolía", Valencia, Spain; 2Department of Ophthalmology, Macula Section, The University and Polytechnic Hospital La Fe, Valencia, Spain; 3Department of Ophthalmology, University Hospital Reina Sofia, Murcia, Spain; 4Faculty of Medicine, University of Valencia, Spain; 5Uni…

GerontologyAginggenetic structuresGlaucomaDry Eye SyndromesReviewBioinformaticsmedicine.disease_causeEyeRetinal Diseasesophthalmic diseases; antioxidants; epidemiology; oxidative stress; eyes; agingMedicineHumansOcular Physiological PhenomenaPathologicalOcular Physiological PhenomenaAgedMechanism (biology)business.industrySettore MED/30 - Malattie Apparato VisivoRC952-954.6Glaucomaophthalmic diseasesGeneral MedicineDiabetic retinopathyeyesMacular degenerationmedicine.diseaseeye diseasesOxidative stress. Eyes. Aging. Ophthalmic Diseases. Antioxidants. Epidemiology.Oxidative StressantioxidantsGeriatricsDietary SupplementsDry Eye Syndromesepidemiologysense organsGeriatrics and GerontologybusinessOxidative stress
researchProduct

Neuroprotective potential of Ginkgo biloba in retinal diseases

2019

AbstractLike other tissues of the central nervous system, the retina is susceptible to damage by oxidative processes that result in several neurodegenerative disease such as age-related macular degeneration, diabetic retinopathy, glaucoma, ischaemic retinal disease, retinal disease produced by light oxidation, and detached retina, among other diseases. The use of antioxidant substances is a solution to some health problems caused by oxidative stress, because they regulate redox homeostasis and reduce oxidative stress. This is important for neurodegeneration linked to oxidation processes. In line with this, Ginkgo biloba is a medicinal plant with excellent antioxidant properties whose effect…

Ginkgo biloba - Uso terapéutico.Pharmaceutical SciencePharmacologymedicine.disease_cause01 natural sciencesNeuroprotectionAnalytical Chemistrychemistry.chemical_compoundRetinal DiseasesGinkgo biloba - Therapeutic use.Drug DiscoveryAnimalsHumansMedicinePharmacologyRetinabiologyPlant Extracts010405 organic chemistrybusiness.industryGinkgo bilobaRetina - Diseases - Treatment.System nervous - Degeneration - Treatment.Organic ChemistryNeurodegenerationGinkgo bilobaNeurodegenerative DiseasesRetinalDiabetic retinopathyMacular degenerationmedicine.diseasebiology.organism_classificationEye - Diseases - Treatment.0104 chemical sciencesSistema nervioso - Degeneración - Tratamiento.010404 medicinal & biomolecular chemistryNeuroprotective Agentsmedicine.anatomical_structureComplementary and alternative medicinechemistryOjos - Enfermedades - Tratamiento.Molecular MedicinebusinessOxidative stressPhytotherapyRetina - Enfermedades - Tratamiento.
researchProduct

Cohen syndrome is associated with major glycosylation defects

2014

International audience; Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synthesized proteins occurs, we hypothesized that VPS13B deficiency, responsible of Golgi apparatus disturbance, could lead to glycosylation defects and/or mysfunction of this organelle, and thus be a cause of the main clinical manifestations of CS. The glycosylation status of CS serum proteins showed a very unusual pattern of glycosylation characterized by a significant accum…

GlycanGlycosylationGlycosylationEndosomeDevelopmental Disabilities[SDV]Life Sciences [q-bio]Vesicular Transport ProteinsGolgi ApparatusFingers03 medical and health scienceschemistry.chemical_compoundsymbols.namesake0302 clinical medicineAntigens CDIntellectual DisabilityMyopiaGeneticsHumansObesityMolecular BiologyGenetics (clinical)030304 developmental biology0303 health sciencesbiology[ SDV ] Life Sciences [q-bio]Retinal DegenerationTransferrinGeneral MedicineFibroblastsBrefeldin AGolgi apparatusIntercellular Adhesion Molecule-1Cell biologyVPS13BchemistryMembrane proteinBiochemistryMicrocephalysymbolsO-linked glycosylationbiology.proteinMuscle HypotoniaElectrophoresis Polyacrylamide GelRNA InterferenceCell Adhesion Molecules030217 neurology & neurosurgery
researchProduct

Cystic degeneration of uterine leiomyoma during ulipristal acetate treatment

2016

Degenerative cyst formation  is a rare phenomenon in-between uterine leiomyomas, however, both patients and physicians have to be aware of this possibility when using ullipristal acetate as this event may guide to the inaccurate diagnosis of an adnexal malignant pathology.

GynecologyCYSTIC DEGENERATIONmedicine.medical_specialtyPathologychemistry.chemical_compoundUterine leiomyomachemistrybusiness.industryUlipristal acetatemedicineCystbusinessmedicine.diseaseUterus & Ovary
researchProduct

Activation of a caspase-3-independent mode of cell death associated with lysosomal destabilization in cultured human retinal pigment epithelial cells…

2008

International audience; Purpose: To characterize the possible cytotoxic effects of oxysterols (7-hydroxycholesterol (7-OH), 25-hydroxycholesterol (25-OH)) in human retinal pigment epithelial cells (ARPE-19) and to detail the relationships between some of these effects. Methods: ARPE-19 cells were treated with 7-OH and 25-OH. Cell viability was measured with the MTT assay. Membrane permeability, mitochondrial potential, and lysosomal integrity were measured by flow cytometry with propidium iodide, DiOC6(3), and acridine orange, respectively. Cell death was characterized by staining with Hoechst 33342, transmission electron microscopy, and analysis of the DNA fragmentation pattern. Caspase ac…

HUMAN BRUCHS MEMBRANECell Membrane PermeabilityMembrane PotentialsAGE-RELATED MACULOPATHYchemistry.chemical_compound0302 clinical medicineFluorescent Antibody Technique IndirectPigment Epithelium of EyeCaspaseCells CulturedElectrophoresis Agar Gel0303 health sciencesbiologyCell DeathCaspase 3CHOLESTEROLAcridine orangeApoptosis Inducing FactorCytochromes cDipeptidesKetonesFlow CytometrySensory SystemsCell biologyMitochondrial MembranesDNA fragmentationCOLORIMETRIC ASSAYMembrane permeabilityCell SurvivalBlotting WesternLOW-DENSITY-LIPOPROTEINCaspase 3DNA FragmentationCysteine Proteinase Inhibitors03 medical and health sciencesCellular and Molecular NeuroscienceBASAL DEPOSITSAPOPTOSIS-INDUCING FACTORHumansRPE CELLSViability assayPropidium iodide[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs030304 developmental biologyMACULAR DEGENERATIONMolecular biologyHydroxycholesterolsEnzyme ActivationOphthalmologychemistryApoptosis030221 ophthalmology & optometrybiology.proteinLysosomes7-KETOCHOLESTEROL-INDUCED APOPTOSIS[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
researchProduct