Increased cerebrospinal fluid lactate levels in Parkison’s disease: Is it a proof of mitochondrial inefficiency?
Objective: The aim of the present study was to investigate the impairment of neuronal energy metabolism, as measured by means of cerebrospinal fluid (CSF) lactate…Beyond initial clinical phenotype of Madelung disease: Myoclonus, gait disorder and multisystem involvement led to genetic diagnosis
Objective: To report the clinical phenotype of an uncommon hereditary systemic disease with slowly progressive gait and movement disorder with genetic identification of two concurrent…Epigenome-wide association study of Parkinson’s disease
Objective: To identify gene-specific DNA methylation associated with Parkinson's disease (PD). Background: There is a growing interest in the role of epigenetic DNA methylation (DNAm)…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…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…
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