MitoQ and Reduced Glutathione Protects Against Dopamine Induced Brain Mitochondrial Electron Transport Chain Inhibition During Extended In Vitro Incubation: Involvement of Free Radicals and Quinone Products
Objective: To study the impact of MitoQ and GSH against DA induced rat brain mitochondrial electron transport chain inhibition during extended in vitro incubation. Background:…NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy
Objective: To elucidate the genetic cause of a distinct combined dystonia syndrome, inherited in an autosomal recessive fashion in a small UK kindred [Figure1A]. Background:…Heterozygous PINK1 p.G411S mutation increases risk for Parkinson’s disease (PD)
Objective: To investigate the possible disease-association and pathogenic mechanisms of heterozygous PINK1 mutations from a genetic, functional, and structural perspective. Background: It has been postulated…Mitochondrial Hsp90 inhibitor G-TTP triggers PINK1/parkin-dependent mitochondrial quality control
Objective: To characterize the response of cells treated with Gamitrinib-triphenylphosphonium (G-TTP) a mitochondrial targeted inhibitor of the chaperone Hsp90. Background: Upon dissipation of the mitochondrial…Induced pluripotent stem cell-derived cortical neurons as a disease model for X-linked dystonia-parkinsonism
Objective: To elucidate the disease-associated cellular phenotype of induced pluripotent stem cell (iPSC)-derived cortical neurons of patients affected by X-linked dystonia-parkinsonism (XDP). Background: XDP is…Fast and simple non-invasive screening tool for mitochondrial changes in Huntington’s disease
Objective: To use Complex I and Complex IV Human Protein Quantity Dipstick Assay Kits to analyse mitochondrial changes in buccal epithelial cells of patients with…Three cases of neuronal intranuclear inclusion disease (NIID)
Objective: Here, we present three NIID cases. One of them, autopsy was performed. Background: Neuronal intranuclear inclusion disease (NIID)(OMIM 603472) is a neurodegenerative disorder characterized…Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea
Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…Genetic analysis of CHCHD2 gene in Parkinson’s disease in a Taiwanese population
Objective: To evaluate the genetic mutations of CHCHD2 gene in Taiwanese Parkinson's disease patients. Background: A recent study identified a missense mutation in coiled-coil-helix-coiled-coil-helix domain–containing…Protective effects of ATP13A2 in Parkinson’s disease models
Objective: Decipher the role of ATP13A2 in Parkinson's disease. Background: ATP13A2 is a lysosomal P-type ATPase with significant implications in Parkinson's disease (PD). Little is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.