Investigating the pathogenesis of GBA1-associated Parkinson’s disease using GBA1 isogenic iPSC lines
Objective: We aim to explore the pathogenesis of GBA1-associated synucleinopathies and discern the gain- vs. loss-of-function hypotheses by genetically engineering GBA1 in an iPSC line derived…Untargeted Serum Metabolomics Identifies Glycine-Serine Metabolism Disruption as Biochemical Bignature in Parkinson’s Disease
Objective: We attempted to identify a metabolomic signature distinctive of Parkinson’s disease (PD) through an untargeted metabolomics approach. Background: Using an high-performance liquid chromatography targeted…Polyamine pathways: a promising frontier for biomarkers and therapeutic targets in Parkinson’s disease (PD)
Objective: To systematically modulate polyamine (PA) metabolic pathways and investigate PA biomarker findings in PD using Drosophila melanogaster over-expressing human wild-type α-synuclein gene (hSNCA). Our…Development of an AAV-mediated artificial miRNA targeting human alpha-synuclein (α-syn) as a potential gene therapy for Synucleinopathies
Objective: To develop an adeno-associated virus (AAV)-based artificial miRNA (miRNA) system targeting human α-syn. Background: Synucleinopathies such as Parkinson’s disease (PD) and Multiple System Atrophy…Resting-State Network Alterations in Patients with Isolated REM Sleep Behavior Disorder and their Association with Clinical Symptoms
Objective: To characterize brain functional connectivity (FC) in patients with isolated REM sleep behavior disorder (iRBD) and its associations with clinical features. Background: Patients with…Altered activity of lysosomal hydrolases in monocyte-derived macrophages as potential biomarker for differential diagnosis of multiple system atrophy
Objective: The aim was to assess the possibility of differentiating synucleinopathies (Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA) by lysosomal…Characterization of a Novel alpha-synuclein PET radiotracer, [18F]C05-05, in a PPMI Sub-study
Objective: Characterization of the PET radiotracer, [18F]C05-05, in the PPMI Study Background: Validation of imaging biomarkers in Parkinson disease (PD) is a major objective of…Plasma Biomarkers of Alzheimer’s Pathology Identify Prodromal Dementia with Lewy bodies
Objective: To determine whether plasma biomarkers of Alzheimer’s disease (AD) pathology can predict phenoconversion from idiopathic/isolated REM sleep behavior disorder (iRBD) to dementia with Lewy…Common Genetic Variation Associated with Parkinson’s Disease Biological Measures
Objective: To identify common genetic variants associated with biological measures that have been implicated in Parkinson’s disease and related synucleinopathies. Background: Alpha synucleinopathies, mainly including…The Synuclein-One Study: Detection of Cutaneous Phosphorylated alpha-synuclein for the Diagnosis of the Synucleinopathies
Objective: The Synuclein-One study is an NIH-funded 30-site, multicenter trial of 428 patients with synucleinopathies including Parkinson’s disease (PD), dementia with Lewy bodies (DLB), multiple…
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