Mitochondrial cardiolipin couples electron transport between ubiquinone and complex I to rescue PINK1 deficiency
Objective: Test the effect of loss of FASN on Pink1 deficiency. Background: PINK1 deficiency causes Parkinson's disease that is based on mitochondrial defects including inefficient…Heterozygous TUBB4A knock-out impairs mitochondrial motility in human neuronal model of DYT4
Objective: To study the role of tubulin beta 4A (TUBB4A) in mitochondrial motility in isogenic induced pluripotent stem cells (iPSC)-derived neurons. Background: Heterozygous mutations in…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Engrailed enhances dopamine synthesis in healthy dopaminergic neurons
Objective: The aim of the present study was to further elucidate the role of Engrailed in dopamine neurotransmission. Background: Engrailed1 and Engrailed2, collectively Engrailed, are…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…
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