Search results for "Neurodegenerative disorders"

showing 10 items of 17 documents

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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A Brief Overview on BDNF-Trk Pathway in the Nervous System: A Potential Biomarker or Possible Target in Treatment of Multiple Sclerosis?

2022

The growing incidence of neurodegenerative disorders in our populations is leading the research to identify potential biomarkers and targets for facilitating their early management and treatments. Biomarkers represent the crucial indicators of both physiological and pathological processes. Specific changes in molecular and cellular mechanisms of physiological processes result in biochemical alterations at systemic level, which can give us comprehensive information regarding the nature of any disease. In addition, any disease biomarker should be specific and reliable, able to consent of distinguishing the physiological condition of a tissue, organ, or system from disease, and be diverse amon…

BDNF-Trk pathwayNeurologyneurodegenerative disordersbiomarkerstargetsSettore MED/05 - Patologia ClinicaNeurology (clinical)multiple sclerosis
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Sleep quality in caregivers of patients with Alzheimer’s disease and Parkinson’s disease and its relationship to quality of life

2012

ABSTRACTBackground: Knowledge about sleep complaints of caregivers of patients with Alzheimer's disease (AD) and Parkinson's disease (PD) is limited, and we lack information about the relationship between caregivers’ sleep problems and their quality of life (QoL).Methods: We evaluated subjective sleep quality and its relationship to QoL in a group of 80 caregivers of patients with AD (ADCG, n = 40) and PD (PDCG, n = 40), and in 150 controls. Information about night-time complaints was collected using the Pittsburgh Sleep Quality Index (PSQI). QoL was measured using the McGill QoL Questionnaire.Results: Eighteen ADCG (45%), 22 PDCG (55%), and 45 (30%) controls reported poor sleep quality. Me…

MaleSleep Wake DisordersCoping (psychology)medicine.medical_specialtyParkinson's diseaseDiseaseSleep Wake DisordersSeverity of Illness IndexPittsburgh Sleep Quality IndexCost of IllnessAlzheimer DiseaseSickness Impact ProfileSurveys and QuestionnairesSeverity of illnessMedicineHumansAgedAged 80 and overAlzheimer’s disease Parkinson’s disease neurodegenerative disorders caregivers sleep depression quality of lifebusiness.industryDepressionParkinson DiseaseMiddle Agedmedicine.diseasePsychiatry and Mental healthClinical PsychologySleep deprivationCaregiversItalyPhysical therapyQuality of LifeRegression AnalysisSleep DeprivationFemaleSettore MED/26 - NeurologiaSelf ReportGeriatrics and Gerontologymedicine.symptomAlzheimer's diseasebusinessGerontologyStress Psychological
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''Deferoxamine blocks death induced by glutathione depletion in PC 12 cells''

2013

Chouraqui, E. | Leon, A. | Repesse, Y. | Prigent-Tessier, A. | Bouhallab, S. | Bougle, D. | Marie, C. | Duval, D.; International audience; ''The purpose of the present work was to investigate the mechanisms by which glutathione depletion induced by treatment with buthionine sulfoximine (BSO) led within 24-30 h to PC 12 cells apoptosis. Our results showed that treatment by relatively low concentrations (10-30 mu M) of deferoxamine (DFx), a natural iron-specific chelator, almost completely shielded the cells from BSO-induced toxicity and that DFx still remained protective when added up to 9-12 h after BSO treatment. On the other hand, phosphopeptides derived from milk casein and known to carr…

Time FactorsIronApoptosisDeferoxaminePharmacologyIron Chelating AgentsToxicologymedicine.disease_causePC12 Cellschemistry.chemical_compoundOXIDATIVE-STRESSPARKINSONS-DISEASECaseinmedicineAnimalsHomeostasisButhionine sulfoximineButhionine SulfoximineNeuronsCELLULAR IRONDose-Response Relationship DrugbiologyChemistryGeneral NeuroscienceGlutathioneGlutathioneIRON CHELATORRatsDeferoxamineFerritinSYMPATHETIC NEURONSISCHEMIC-STROKEBiochemistryBRAIN IRONCELLULAR IRON''CytoprotectionApoptosisToxicity[ SCCO.NEUR ] Cognitive science/Neurosciencebiology.proteinSERUM DEPRIVATIONHEME OXYGENASE-1NEURODEGENERATIVE DISORDERSOxidative stress''OXIDATIVE-STRESSmedicine.drug
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disord…

2019

Rubinstein–Taybi syndrome (RSTS) is an autosomal-dominant neurodevelopmental disease affecting 1:125,000 newborns characterized by intellectual disability, growth retardation, facial dysmorphisms and skeletal abnormalities. RSTS is caused by mutations in genes encoding for writers of the epigenetic machinery: CREBBP (~ 60%) or its homologous EP300 (~ 10%). No causative mutation is identified in up to 30% of patients. We performed whole-exome sequencing (WES) on eight RSTS-like individuals who had normal high-resolution array CGH testing and were CREBBP- and EP300-mutation -negative, to identify the molecular cause. In four cases, we identified putatively causal variants in three genes (ASXL…

MaleGenetic Association StudieCompound heterozygosityWhole Exome SequencingArticleEpigenesis Genetic03 medical and health scienceswhole exome sequencing Rubinstein–Taybi syndrome epigenetic mutationsExome SequencingGeneticsmedicineHumansEpigeneticsEP300ChildGenetics (clinical)Exome sequencingGenetic Association Studies030304 developmental biologyGeneticsRubinstein-Taybi Syndrome0303 health sciencesComparative Genomic HybridizationbiologyRubinstein–Taybi syndrome030305 genetics & heredityInfant NewbornFaciesInfantmedicine.diseaseFacieCREB-Binding ProteinHuman geneticsRSTSKMT2APhenotypeChild PreschoolMutationbiology.proteinNeurodegenerative disordersFemaleHaploinsufficiencyE1A-Associated p300 ProteinHumanHuman genetics
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Transcriptomic and Genetic Associations between Alzheimer's Disease, Parkinson's Disease, and Cancer.

2021

Simple Summary Epidemiological studies have identified a link between neurodegenerative disorders and a reduced risk of overall cancer. Increases and decreases in the risk of site-specific cancers have also been reported. However, it is still unknown whether these associations arise due to shared genetic and molecular factors or are explained by other phenomena (e.g., biases in epidemiological studies or the use of medication). In this study, we aimed to investigate the potential molecular, genetic, and pharmacological links between Alzheimer’s and Parkinson’s diseases and a large panel of 22 cancer types. To examine the overlapping involvement of genes and pathways, we obtained differentia…

0301 basic medicineOncologyCancer ResearchParkinson's diseaseGenetic correlationsGenome-wide association studyDiseaseComorbidityParkinson Enfermedad de - Aspectos genéticos.chemistry.chemical_compound0302 clinical medicineExemestaneParkinson's disease - Genetic aspects.MedicineParkinsonCáncer - Aspectos genéticos.Càncer -- Aspectes genèticsRC254-282Alzheimer's disease - Genetic aspects.NeurodegenerationNeoplasms. Tumors. Oncology. Including cancer and carcinogensCódigo genético.comorbidityOncology:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]medicine.medical_specialtyGenetic code.Alzheimer Enfermedad de - Aspectos genéticos.Article03 medical and health sciencesInternal medicineParkinson Malaltia dePI3K/AKT/mTOR pathwaygenetic correlationsCancer - Genetic aspects.business.industryCancertranscriptomicmedicine.diseaseComorbidityAlzheimer Malaltia d'030104 developmental biologychemistryTranscriptomicmeta-analysesMeta-analysesNeurodegenerative disordersAlzheimerGene expressionbusiness030217 neurology & neurosurgeryCancers
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Polymer Drug Conjugates for the Treatment of Neurodegenerative Disorders

2013

Nanociencia y nanotecnología son la base de técnicas innovadoras para el transporte de fármacos con beneficios potenciales para el paciente y nuevos mercados para la industria. La obtención de nuevos sistemas de transporte de fármacos más efectivos es uno de los principales retos actuales, junto con la mejora del diagnóstico tanto in vitro como in vivo y el desarrollo de tecnologías para la ingeniería tisular y la medicina regenerativa. Además de ser necesario disponer de moléculas con actividad farmacológica para conseguir terapias efectivas se necesitan su transporte y liberación controlada para llegar a conseguir tratamientos con mayor índice terapéutico. El uso de estrategias de direcci…

neurodegenerative disordersenfermedades neurodegenerativaspolymer therapeuticspolymer conjugatesconjugados poliméricospolímeros terapéuticos
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Design, Synthesis and Evaluation of Fluorescent Analogues of Abscisic Acid

2020

A fluorescent analogue of abscisic acid has been prepared by combining (S)‐abscisic acid (ABA) with nitrobenzoxadiazole (NBD) fluorophore using ethanol amine as a linker. Isomerization of the double bond at the side chain of abscisic acid happened during the synthesis. The resulting fluorophore analogues derived from both isomeric compounds entered cells suggesting a wide applicability of the ABA‐NBD conjugates as fluorescent probes to study ABA mechanism of action. The functional properties of the isomeric ABA‐NBD conjugates were tested in vitro, by measuring TNFα expression and nitrite concentration in LPS‐stimulated macrophages and compared with their non‐fluorescent ABA isomers. Rationa…

organic chemicalsfungifood and beveragesGeneral Chemistryfluorescent analoguesFluorescenceabscisic acidchemistry.chemical_compoundchemical probesDesign synthesischemistryBiochemistryinflammationneurodegenerative disorderslipids (amino acids peptides and proteins)Abscisic acidChemistrySelect
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The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease

2017

In neurons, but also in all other cells the complex proteostasis network is monitored and tightly regulated by the cellular protein quality control (PQC) system. Beyond folding of newly synthesized polypeptides and their refolding upon misfolding the PQC also manages the disposal of aberrant proteins either by the ubiquitin-proteasome machinery or by the autophagic-lysosomal system. Aggregated proteins are primarily degraded by a process termed selective macroautophagy (or aggrephagy). One such recently discovered selective macroautophagy pathway is mediated by the multifunctional HSP70 co-chaperone BAG3 (BCL-2-associated athanogene 3). Under acute stress and during cellular aging, BAG3 in …

0301 basic medicineHuntingtinSOD1AggrephagyReviewBAG3lcsh:RC321-57103 medical and health sciencesCellular and Molecular NeuroscienceUbiquitinselective macroautophagymedicineprotein quality controllcsh:Neurosciences. Biological psychiatry. NeuropsychiatryMolecular BiologyproteostasisbiologyBAG3NeurodegenerationAutophagymedicine.diseaseCell biology030104 developmental biologyProteostasisneurodegenerative disordersbiology.proteinNeuroscienceFrontiers in Molecular Neuroscience
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Oleic Derivatives of Dopamine and Respiration

2018

Ventilatory inhibition is considered an undesirable pharmacological side effect of pharmacotherapy in neurodegenerative conditions underlain by brain dopamine deficiency. In this context, oleic derivatives of dopamine or N-acyl-dopamines are novel substances that may be of high therapeutic interest as having the ability to cross the blood-brain barrier and acting in dopamine-like manner. In the present study we seek to define the influence of N-acyl-dopamines on lung ventilation and its hypoxic responses in the rat. We found that N-oleoyl-dopamine decreased both normoxic and peak hypoxic ventilation in response to 8% acute hypoxia, on average, by 31% and 41%, respectively. Its metabolite, 3…

DopamineLung ventilation N-acyl-dopaminesNeurodegenerative disordersBrainOleic derivatives of dopamineHypoxia
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