Genome-wide bioinformatic analysis of Parkinson’s disease: A focus on neuronal health maintenance
Objective: To scan the human genome for genes involved in neuronal health maintenance in Parkinson's disease (PD). Background: An enormous number of genes and pathways…Development of a human neuroblastoma model of pantothenate kinase-associated neurodegeneration
Objective: To establish a stable human neuronal model defective in PanK2. Background: Pantothenate Kinase-Associated Neurodegeneration (PKAN), is caused by mutations in PANK2, which encodes one…Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy
Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…Parkinson’s disease-associated Miro1 mutants cause mitochondrial dysfunction
Objective: In the present study we dissected the role of the first PD-associated mutations in RhoT1, the gene encoding for Miro1. Background: Commonly involved pathogenic…PINK1-dependent clearance of depolarized mitochondria is driven by the UPS and can occur independently of (macro)autophagy
Objective: To disect the role of macroautophagy in PINK1-/Parkin-dependent removal of depolarized mitochondria. Background: The ubiquitin ligase Parkin and mitochondrial kinase PINK1 function together in…Defective ubiquitinated mitochondria accumulation in aged Parkinsonian LRRK2R1441G knockin mice
Objective: (1) To determine potential accumulation of defective ubiquitinated mitochondria in the brains of aged LRRK2R1441G knockin (KI) mice and their age-matched wildtype controls; and…Drp1 inhibition amelioratesα-synuclein-mediated neurodegeneration in rats
Objective: To provide new insights on the relationships occurring between mitochondria physiology and α-synuclein (α-syn) accumulation in an animal model of progressive neurodegeneration. Background: In…Mitochondrial-nuclear interplay in single respiratory chain-deficient Parkinson’s disease neurons
Objective: To explore the role of the mitochondrial DNA (mtDNA) in the development of respiratory chain complex (CI-IV) deficiencies in the substantia nigra (SN) of…Mitochondrial response precedes intracellular accumulation of α-synuclein in Parkinson’s disease
Objective: To investigate the expression of mitochondrial COX-IV during the progression of Parkinson's disease. Background: Parkinson's disease (PD) is a neurodegenerative disease characterized by the…Mild mitochondrial impairment promotes corticostriatal synaptic plasticity alterations in PINK1 heterozygous knockout mice
Objective: To investigate the effects of the exposure to low-dose rotenone of heterozygous PINK1 knockout (PINK1+/-) mice, compared to their wild-type littermates (PINK1+/+), on dopamine-dependent…
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