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.…POLG2 Variant Reclassification Reveals Diagnosis in Adult with MSA-C Phenotype
Objective: (1) To emphasize the critical role of genetic evaluation in adult-onset movement disorders (2) to demonstrate that POLG2-related disorders should be considered in the…Pleozymes, A Multifunctional Nanozyme for Targeting Metabolic Deficits in Friedreich’s Ataxia
Objective: Mitochondrial dysfunction in Friedreich’s Ataxia (FRDA) results from GAA repeat expansion in the FXN gene, reducing frataxin levels thus disrupting iron-sulfur clusters essential for…Dystonia as a Rare Manifestation of POLG-Related Disease: A Case Report
Objective: We present a case of a patient with a history of recurrent stroke-like lesions, epilepsy, and progressive generalized dystonia with dystonic tremor secondary to…Neuroprotective Effects of Thymol in MPTP-Induced Parkinson’s Disease Model in Rats: Molecular Docking, Behavioral, Biochemical, and Histological Investigations
Objective: This study aimed to investigate the neuroprotective potential of thymol in an MPTP-induced Parkinson’s disease (PD) model in rats, focusing on its ability to…Investigating the Neuroprotective Potential of Mushroom Extracts in Parkinson’s Disease In Vitro Models
Objective: This study aims to evaluate the neuroprotective potential of various mushroom extracts in in vitro models of PD. Background: Parkinson’s disease (PD) is a…Pharmacological PGC-1α Activation Mitigates Dopaminergic Degeneration in Parkinson’s Disease Via Regulating Mitochondrial Homeostasis
Objective: To understand the role of mitochondrial function in improving the outcomes of Parkinson’s disease (PD) via pharmacologically activating PGC-1α by its synthetic activator ZLN005.…
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