Translational Target Engagement of HER-096 Demonstrates Concordant Proteostasis and Mitochondrial Modulation in Preclinical Models and Patients with Parkinson’s Disease
Objective: To evaluate translational target engagement of HER-096, a CDNF-derived peptidomimetic, in preclinical models of Parkinson’s disease (PD) and in a Phase 1b clinical study…PPAR-γ-dependent Neuroprotection by Ferulic acid improves Motor deficits in 3-nitropropionic acid model of Huntington’s disease in rats
Objective: This study investigates the neuroprotective role of FA in 3-nitropropionic acid (3-NP) model of HD through PPAR-γ–mediated mechanisms. Background: Huntington disease (HD) is a…Investigating Mitochondrial Integrity in Spinocerebellar Ataxia Type 12 via Patient-Derived iPSC Models
Objective: This study aims to establish patient-derived induced pluripotent stem cell (iPSC) models of Spinocerebellar Ataxia Type 12 (SCA12) and investigate mitochondrial transcriptional alterations across…Rare Heterozygous SLC25A12 Variants Are Associated with Parkinson’s Disease
Objective: To identify rare genetic variants contributing to Parkinson’s disease (PD) using analysis of multiplex families and large-scale genomic datasets. Background: Rare variants identified through…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)…
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