0000000001143715

AUTHOR

Edna Ripoll Eacutes

showing 1 related works from this author

Enhanced activity of glycolytic enzymes in Drosophila and human cell models of Parkinson's disease based on DJ-1 deficiency

2020

ABSTRACTParkinson’s disease (PD) is a neurodenerative debilitating disorder characterized by progressive disturbances in motor, autonomic and psychiatric functions. The pathological hallmark of PD is the loss of dopaminergic neurons in the substantia nigra pars compacta, which causes striatal dopamine deficiency. Although most PD cases are sporadic (iPD), approximately 5-10% of all patients suffer from monogenic PD forms caused by highly penetrant rare mutations segregating with the disease in families (fPD). One of the genes linked to monogenic PD is DJ-1. Mutations in DJ-1 cause autosomal recessive early-onset forms of fPD; however, it has been shown that an over-oxidized and inactive for…

0301 basic medicineParkinson's diseaseProtein CarbonylationProtein Deglycase DJ-1MutantNerve Tissue ProteinsSubstantia nigraBiologymedicine.disease_causeBiochemistryNeuroprotection03 medical and health sciences0302 clinical medicinePhysiology (medical)medicineAnimalsDrosophila ProteinsHumansGlycolysisGeneLoss functionPars compactaChemistryDopaminergicParkinson Diseasemedicine.diseasePhenotypeCell biologyOxidative Stress030104 developmental biologyDrosophilaGlycolysis030217 neurology & neurosurgeryOxidative stressFree Radical Biology and Medicine
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