Search results for "PARKIN"

showing 10 items of 468 documents

Oxidative modification impairs SERCA activity in Drosophila and human cell models of Parkinson's disease

2021

DJ-1 is a causative gene for familial Parkinson's disease (PD) with different functions, standing out its role against oxidative stress (OS). Accordingly, PD model flies harboring a mutation in the DJ-1β gene (the Drosophila ortholog of human DJ-1) show high levels of OS markers like protein carbonylation, a common post-translational modification that may alter protein function. To increase our understanding of PD pathogenesis as well as to discover potential therapeutic targets for pharmacological intervention, we performed a redox proteomic assay in DJ-1β mutant flies. Among the proteins that showed increased carbonylation levels in PD model flies, we found SERCA, an endoplasmic reticulum…

0301 basic medicineSERCAProteomeProtein CarbonylationProtein Deglycase DJ-1MutantOxidative phosphorylationmedicine.disease_causeSarcoplasmic Reticulum Calcium-Transporting ATPasesAnimals Genetically ModifiedProtein CarbonylationNeuroblastoma03 medical and health sciences0302 clinical medicinemedicineAnimalsDrosophila ProteinsHumansMolecular BiologyMutationActivator (genetics)ChemistryEndoplasmic reticulumfungiParkinson DiseaseCell biologyDisease Models AnimalOxidative StressDrosophila melanogasterPhenotype030104 developmental biologyMutationMolecular MedicineCalciumOxidation-Reduction030217 neurology & neurosurgeryOxidative stressBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Pressure effects on α-synuclein amyloid fibrils: An experimental investigation on their dissociation and reversible nature

2017

α–synuclein amyloid fibrils are found in surviving neurons of Parkinson's disease affected patients, but the role they play in the disease development is still under debate. A growing number of evidences points to soluble oligomers as the major cytotoxic species, while insoluble fibrillar aggregates could even play a protection role. In this work, we investigate α–synuclein fibrils dissociation induced at high pressure by means of Small Angle X-ray Scattering and Fourier Transform Infrared Spectroscopy. Fibrils were produced from wild type α–synuclein and two familial mutants, A30P and A53T. Our results enlighten the different reversible nature of α–synuclein fibrils fragmentati…

0301 basic medicineSmall AngleAmyloidHigh-pressureMutantBiophysicsmacromolecular substances010402 general chemistryFibril01 natural sciencesBiochemistryDissociation (chemistry)Scattering03 medical and health scienceschemistry.chemical_compoundX-Ray DiffractionScattering Small AngleSpectroscopy Fourier Transform InfraredPressureHumansPoint MutationFourier transform infrared spectroscopyMolecular BiologySpectroscopyAlpha-synucleinAmyloid; FTIR; High-pressure; SAXS; α-synuclein; Amyloid; Humans; Parkinson Disease; Point Mutation; Pressure; Scattering Small Angle; Solubility; Spectroscopy Fourier Transform Infrared; X-Ray Diffraction; alpha-Synuclein; Biophysics; Biochemistry; Molecular BiologySmall-angle X-ray scatteringWild typeα-synucleinParkinson DiseaseSAXSAmyloid fibril0104 chemical sciences?-synucleinCrystallography030104 developmental biologyBiophysicchemistryFTIRSolubilityFourier Transform InfraredBiophysicsalpha-SynucleinHuman
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Retinal Thickness and Microvascular Pattern in Early Parkinson's Disease.

2020

A thinning of intraretinal layers has been previously described in Parkinson's disease (PD) patients compared to healthy controls (HCs). Few studies evaluated the possible correlation between retinal thickness and retinal microvascularization. Thus, here we assessed the thickness of retinal layers and microvascular pattern in early PD patients and HCs, using, respectively, spectral-domain optical coherence tomography (SD-OCT) and SD-OCT-angiography (SD-OCT-A), and more interestingly, we evaluated a possible correlation between retinal thickness and microvascular pattern. Patients fulfilling criteria for clinically established/clinically probable PD and HCs were enrolled. Exclusion criteria …

0301 basic medicineSystemic diseasemedicine.medical_specialtyretinaParkinson's diseasegenetic structuresNerve fiber layeroptical coherence tomography angiographylcsh:RC346-42903 medical and health scienceschemistry.chemical_compound0302 clinical medicinevascularizationOphthalmologyMedicinelcsh:Neurology. Diseases of the nervous systemOriginal ResearchRetinaoptical coherence tomographybusiness.industryMicrovascular DensityRetinalmedicine.diseaseInner plexiform layereye diseases030104 developmental biologymedicine.anatomical_structurechemistryNeurologyInner nuclear layerparkinson's diseaseNeurology (clinical)sense organsbusiness030217 neurology & neurosurgeryoptical coherence tomography; optical coherence tomography angiography; parkinson's disease; retina; vascularizationFrontiers in neurology
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Hypothesis: Etiologic and Molecular Mechanistic Leads for Sporadic Neurodegenerative Diseases Based on Experience With Western Pacific ALS/PDC

2019

Seventy years of research on Western Pacific amyotrophic lateral sclerosis and Parkinsonism-dementia Complex (ALS/PDC) have provided invaluable data on the etiology, molecular pathogenesis and latency of this disappearing, largely environmental neurodegenerative disease. ALS/PDC is linked to genotoxic chemicals (notably methylazoxymethanol, MAM) derived from seed of the cycad plant (Cycas spp.) that were used as a traditional food and/or medicine in all three disease-affected Western Pacific populations. MAM, nitrosamines and hydrazines generate methyl free radicals that damage DNA (in the form of O6-methylguanine lesions) that can induce mutations in cycling cells and degenerative changes …

0301 basic medicineamyotrophic lateral sclerosisDNA damageDiseaseBiologylcsh:RC346-429Environmental - originProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineHypothesis and TheorymedicinenitrosaminesAmyotrophic lateral sclerosislcsh:Neurology. Diseases of the nervous systemhydrazinesprogressive supranuclear palsymedicine.diseaseatypical parkinsonism030104 developmental biologyBrain degenerationNeurologyImmunologyEtiologycycad methylazoxymethanol and L-BMAADNA damageNeurology (clinical)Alzheimer's diseaseAlzheimer disease030217 neurology & neurosurgeryFrontiers in Neurology
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Functions and Therapeutic Potential of Extracellular Hsp60, Hsp70, and Hsp90 in Neuroinflammatory Disorders

2021

Neuroinflammation is implicated in central nervous system (CNS) diseases, but the molecular mechanisms involved are poorly understood. Progress may be accelerated by developing a comprehensive view of the pathogenesis of CNS disorders, including the immune and the chaperone systems (IS and CS). The latter consists of the molecular chaperones; cochaperones; and chaperone cofactors, interactors, and receptors of an organism and its main collaborators in maintaining protein homeostasis (canonical function) are the ubiquitin–proteasome system and chaperone-mediated autophagy. The CS has also noncanonical functions, for instance, modulation of the IS with induction of proinflammatory cytokines. …

0301 basic medicineamyotrophic lateral sclerosislcsh:TechnologychaperonopathiesProinflammatory cytokinelcsh:Chemistrys disease03 medical and health sciences0302 clinical medicinechaperone systemmedicineamyotrophic lateral sclerosiGeneral Materials Sciencelcsh:QH301-705.5InstrumentationchaperonotherapyNeuroinflammationFluid Flow and Transfer Processesbiologylcsh:TMechanism (biology)Process Chemistry and Technologymolecular chaperonesNeurodegenerationAutophagyGeneral EngineeringParkinson’S diseasemolecular chaperonemedicine.diseaseHuntington’ s diseaseHsp90lcsh:QC1-999Computer Science Applications030104 developmental biologylcsh:Biology (General)lcsh:QD1-999lcsh:TA1-2040multiple sclerosiChaperone (protein)Alzheimerbiology.proteinHSP60lcsh:Engineering (General). Civil engineering (General)Alzheimer’s diseaseNeurosciencelcsh:Physics030217 neurology & neurosurgeryHuntington’s diseaseApplied Sciences
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Selective α-synuclein knockdown in monoamine neurons by intranasal oligonucleotide delivery: potential therapy for parkinson’s disease

2018

Progressive neuronal death in brainstem nuclei and widespread accumulation of α-synuclein are neuropathological hallmarks of Parkinson’s disease (PD). Reduction of α-synuclein levels is therefore a potential therapy for PD. However, because α-synuclein is essential for neuronal development and function, α-synuclein elimination would dramatically impact brain function. We previously developed conjugated small interfering RNA (siRNA) sequences that selectively target serotonin (5-HT) or norepinephrine (NE) neurons after intranasal administration. Here, we used this strategy to conjugate inhibitory oligonucleotides, siRNA and antisense oligonucleotide (ASO), with the triple monoamine reuptake …

0301 basic medicineanimal diseasesDopamineOligonucleotidesGene ExpressionPharmacologySynaptic TransmissionPrefrontal cortexMiceDA neurotransmission0302 clinical medicineDrug DiscoveryMonoaminergicNeural PathwaysRNA Small InterferingCells Cultured5-HT neurotransmissionChemistryGene Transfer TechniquesParkinson DiseaseVentral tegmental areaSubstantia Nigramedicine.anatomical_structureCaudate putamenGene Knockdown Techniquesalpha-SynucleinMolecular MedicineRNA InterferenceOriginal ArticleMonoamine reuptake inhibitormedicine.drugSignal TransductionSerotoninSubstantia nigraASO03 medical and health sciencesProsencephalonα-synucleinDopamineIntranasal administrationGeneticsmedicineAnimalsHumansMolecular BiologyAdministration IntranasalPharmacologyPars compactaDopaminergic NeuronsGenetic TherapyCorpus Striatumnervous system diseases030104 developmental biologyMonoamine neurotransmitterGene Expression Regulationnervous systemsiRNAParkinson’s diseaseLocus coeruleus030217 neurology & neurosurgery
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Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA)

2020

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a group of invalidating and progressive rare diseases that share the abnormal accumulation of iron in the basal ganglia. The onset of NBIA disorders ranges from infancy to adulthood. Main clinical signs are related to extrapyramidal features (dystonia, parkinsonism and choreoathetosis), and neuropsychiatric abnormalities. Ten NBIA forms are widely accepted to be caused by mutations in the genes PANK2, PLA2G6, WDR45, C19ORF12, FA2H, ATP13A2, COASY, FTL1, CP, and DCAF17. Nonetheless, many patients remain without a conclusive genetic diagnosis, which shows that there must be additional as yet undiscovered NBIA gen…

0301 basic medicineautophagybrain iron accumulationPhysiologyNeurodegeneration with brain iron accumulationClinical BiochemistryChoreoathetosisrare diseaseReviewmedicine.disease_causeBiochemistryneuroinflammation03 medical and health sciences0302 clinical medicineWDR45lipid metabolismmitochondrial dysfunctionMedicineoxidative stressiron metabolismMolecular BiologyNeuroinflammationDystoniabusiness.industryParkinsonismlcsh:RM1-950Cell Biologymedicine.diseasePANK2030104 developmental biologylcsh:Therapeutics. Pharmacologymembrane remodellingmedicine.symptombusinessneurodegenerative disorderNeuroscience030217 neurology & neurosurgeryOxidative stressAntioxidants
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Structure-Activity Relationship Analysis of 3-Phenylcoumarin-Based Monoamine Oxidase B Inhibitors

2018

Monoamine oxidase B (MAO-B) catalyzes deamination of monoamines such as neurotransmitters dopamine and norepinephrine. Accordingly, small-molecule MAO-B inhibitors potentially alleviate the symptoms of dopamine-linked neuropathologies such as depression or Parkinson's disease. Coumarin with a functionalized 3-phenyl ring system is a promising scaffold for building potent MAO-B inhibitors. Here, a vast set of 3-phenylcoumarin derivatives was designed using virtual combinatorial chemistry or rationally de novo and synthesized using microwave chemistry. The derivatives inhibited the MAO-B at 100 nM−1 μM. The IC50 value of the most potent derivative 1 was 56 nM. A docking-based structure-activi…

0301 basic medicineentsyymitParkinson's diseaseParkinsonin tautita311101 natural scienceslääkesuunnittelumonoamine oxidase B (MAO-B)lcsh:Chemistry03 medical and health scienceschemistry.chemical_compoundstructure-activity relationship (SAR)Dopamine3-phenylcoumarinmedicineStructure–activity relationshipoksidoreduktaasitkumariinitta116ta317inhibiittoritOriginal Researchchemistry.chemical_classificationbiologyvirtual drug designta1182General ChemistryCoumarin3. Good health0104 chemical sciences010404 medicinal & biomolecular chemistryChemistry030104 developmental biologyMonoamine neurotransmitterEnzymeBiochemistrychemistrylcsh:QD1-999Docking (molecular)biology.proteinParkinson’s diseaseMonoamine oxidase BMonoamine oxidase Amedicine.drugFrontiers in Chemistry
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New Symptomatic Treatments for the Management of Motor and Nonmotor Symptoms of Parkinson's Disease

2017

Motor symptoms are core features of Parkinson's disease, while nonmotor symptoms are present from the prodromal stage. Management strategies for the motor symptoms of Parkinson's disease have been widely researched and there have been many advances. Therapy has evolved from oral therapy to once a day to nonoral strategies, both for rescue and for infusion therapy. Treatment for nonmotor symptoms, however, has remained a key unmet need, although of late evidence base for management of some nonmotor symptoms such as pain, dementia, aspects of sleep dysfunction, and constipation has emerged. However, management of many nonmotor symptoms such as anxiety, apathy, fatigue, and insomnia remains un…

0301 basic medicinemedicine.medical_specialtyConstipationParkinson's diseaseProdromal StageDiseasemedicine.diseasebody regions03 medical and health sciences030104 developmental biology0302 clinical medicinePhysical medicine and rehabilitationInfusion therapymedicineDementiaAnxietyApathymedicine.symptomPsychology030217 neurology & neurosurgery
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Multi-Dimensional, Short-Timescale Quantification of Parkinson's Disease and Essential Tremor Motor Dysfunction

2020

Introduction: Parkinson's disease (PD) is a progressive movement disorder characterized by heterogenous motor dysfunction with fluctuations in severity. Objective, short-timescale characterization of this dysfunction is necessary as therapies become increasingly adaptive. Objectives: This study aims to characterize a novel, naturalistic, and goal-directed tablet-based task and complementary analysis protocol designed to characterize the motor features of PD. Methods: A total of 26 patients with PD and without deep brain stimulation (DBS), 20 control subjects, and eight patients with PD and with DBS completed the task. Eight metrics, each designed to capture an aspect of motor dysfunction in…

0301 basic medicinemedicine.medical_specialtyDeep brain stimulationParkinson's diseaseMovement disordersMotor dysfunctionmedicine.medical_treatmentbehavioral disciplines and activitieslcsh:RC346-429Correlation03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationmedicinelcsh:Neurology. Diseases of the nervous systemOriginal ResearchUPDRSsymptom assessmentEssential tremorbusiness.industryessential tremor (ET)medicine.diseaseControl subjectsdeep brain stimulationmachine learning030104 developmental biologyNeurologyMulti dimensionalNeurology (clinical)medicine.symptombusiness030217 neurology & neurosurgeryParkinson's Disease (PD)Frontiers in Neurology
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