A Genome-Wide Search for Common Variants Modifying Age at Onset in PRKN-Associated Parkinson’s Disease
Objective: The aim of this study was to identify potential genetic modifiers of age at onset in PRKN-associated Parkinson's disease (PD) through a genome-wide association…Juvenile-Onset Parkinsonism With Bilateral Striatal Necrosis Associated With a Pathogenic MT-ND3 Mitochondrial Variant
Objective: To report a case of juvenile-onset parkinsonism associated with bilateral striatal necrosis and a pathogenic MT-ND3 mitochondrial DNA variant, emphasizing an atypical mitochondrial phenotype…Disrupted Lipid Homeostasis and Mitochondrial Remodeling in A53T α-Synuclein Astrocytes
Objective: This study explores lipid metabolic alterations in human astrocytes carrying the A53T α-synuclein mutation and examines their link to mitochondrial organization and cellular bioenergetics.…Cerebrospinal Fluid Metabolic Alterations Reveal a Central Energy Metabolism Shift in Parkinson’s Disease
Objective: To comprehensively characterize central energy metabolism in Parkinson’s disease (PD) through cerebrospinal fluid (CSF) metabolomic profiling. Background: We previously reported weight loss and systemic…Mechanistic study of PARP9-mediated mitochondrial transfer in regulating dopaminergic neuronal injury and neuroinflammation in Parkinson’s disease
Objective: To investigate PARP9 expression and localization in PD models, evaluate its effects on dopaminergic neuronal injury and microglial activation, and determine whether PARP9 regulates…Mechanisms of PLA2G6 Deficiency Impacting Mitochondria-associated membranes in Parkinson’s Disease
Objective: This study aims to explore the functions of PLA2G6 protein at the endoplasmic reticulum-mitochondria interface, unveiling the potential mechanisms of PLA2G6-related Parkinson’s disease (PD)…Single-Neuron Analysis of Mitochondrial DNA Alterations and Respiratory Chain Dysfunction in Parkinson’s Disease
Objective: To investigate mitochondrial DNA (mtDNA) alterations in single neurons from Parkinson's disease (PD) brains and determine their relationship with respiratory chain deficiency. Background: Mitochondrial dysfunction,…DDX17 Drives Astrocytic Mitochondrial Metabolic Reprogramming and Contributes to Parkinson’s Disease Progression
Objective: To investigate whether DDX17, an RNA helicase identified as a Parkinson's disease (PD) risk gene, regulates astrocytic mitochondrial metabolism and contributes to dopaminergic neuron…Low-Intensity Treadmill Training Preserves Motor Function and Muscle Mass Through Mitochondrial and Antioxidant Regulation in a Rat Model of Parkinson’s Disease
Objective: To identify an exercise regimen with the greatest neuroprotective benefit in Parkinson’s disease (PD) and determine whether low-intensity treadmill training preserves motor function and…Dropped Head Syndrome From Combined MT‑TE and MT‑ND1 Mitochondrial Variants
Objective: To report a case of dropped head syndrome (DHS) associated with both Parkinson's Disease (PD) and biopsy-proven mitochondrial myopathy in a patient carrying coexisting…
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