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…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…Counteracting PINK1/parkin deficiency by activating alternative mitophagic pathway: a potential therapeutic intervention for Parkinson’s disease
Objective: To identify a new therapeutic target for developing neuroprotective treatment in Parkinson's disease (PD) by improving mitochondrial function through restoration of mitochondrial quality control…Astroglia exert a neuro-protective role in Parkinson’s disease by reducing oxygen stress through dopamine-induced activation of the pentose-phosphate pathway
Objective: Although dopaminergic neurons themselves take up most of the released dopamine (DA), a part of the DA appears to be taken up by astroglia.…Enteric neurons reveal substantial in vivo mitochondrial changes in Parkinson’s disease
Objective: Study in vivo mitochondrial and ganglionic morphometrics of enteric neurons in Parkinson's disease. Background: While well established in autopsy studies, the crucial role of…
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