Metabolomic biomarkers strongly differentiate PD from healthy controls (HCs) in BioFIND study* specimens
Objective: To determine if metabolomic analysis - untargeted profiling of small-molecule (<1.5 kDalton) biochemical constituents - can yield useful diagnostic biomarkers of PD using CSF…Neuroprotective effect of α-Mangostin in restoration mitochondrial function in MPTP-Induced Parkinson’s disease in mice
Objective: The aim of the present study was to explore the protective effect of alpha-mangostin against mitochondrial oxidative stress in MPTP treated mice. Background: It…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:…Mitochondrial dysfunction in skin fibroblasts from single heterozygous ATP13A2 (PARK9) mutation carriers
Objective: To investigate the pathogenic effect of single heterozygous mutations in ATP13A2, we determined the function and morphological changes of mitochondria in skin fibroblasts derived…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…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…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…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…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…
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