A5022613527- Parkinson's Disease Mechanisms and Treatments
- Nuclear Receptors and Signaling
- Alzheimer's disease research and treatments
- Neurological disorders and treatments
- RNA regulation and disease
- Neurological diseases and metabolism
- Biomedical Ethics and Regulation
- Advanced Glycation End Products research
- Olfactory and Sensory Function Studies
- Biotechnology and Related Fields
- Stress Responses and Cortisol
- Health Systems, Economic Evaluations, Quality of Life
- Botulinum Toxin and Related Neurological Disorders
- Lysosomal Storage Disorders Research
- Infrared Thermography in Medicine
- Histone Deacetylase Inhibitors Research
- Iron Metabolism and Disorders
- Autism Spectrum Disorder Research
- Autophagy in Disease and Therapy
University of Pennsylvania
2021-2024
Philadelphia University
2024
California University of Pennsylvania
2024
University of Regensburg
2016
Many risk loci for Parkinson's disease (PD) have been identified by genome-wide association studies (GWASs), but target genes and mechanisms remain largely unknown. We linked the GWAS-derived chromosome 7 locus (sentinel single-nucleotide polymorphism rs199347) to GPNMB through colocalization analyses of expression quantitative trait PD signals, confirmed allele-specific in human brain. In cells, glycoprotein nonmetastatic melanoma protein B (GPNMB) coimmunoprecipitated colocalized with...
Abstract The pathological hallmark of neurodegenerative diseases is the formation toxic oligomers by proteins such as alpha-synuclein (aSyn) or microtubule-associated protein tau (Tau). Consequently, are promising biomarker candidates for diagnostics well drug development. However, measuring and other aggregates in human biofluids still challenging extreme sensitivity specificity required. We previously developed surface-based fluorescence intensity distribution analysis (sFIDA) featuring...
Objective Using a multi‐cohort, discovery‐replication‐validation design, we sought new plasma biomarkers that predict which individuals with Parkinson's disease (PD) will experience cognitive decline. Methods In 108 discovery cohort PD and 83 replication individuals, measured 940 proteins on an aptamer‐based platform. associated subsequent decline in both cohorts, trained logistic regression model to patients showed fast (> = 1 point drop/year Montreal Cognitive Assessment [MoCA]) versus...
Abstract This is an inception cohort study protocol to enroll people with Parkinson's disease into a biobanking at the clinic-wide level collecting clinical information and blood for future research use. The informed consent process includes optional recontact studies, access medical record, use of samples studies. Blood products (plasma genomic DNA) are banked Clinical data obtained through questionnaire. Each visit lasts between 10-20 min coordinator patient time their return office....
Observational studies in Parkinson's disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration Neurological Diagnosis Initiative seeks to molecular and clinical features every PD patient at the University Pennsylvania (UPenn). objectives this study are determine feasibility genetic characterization assess by sex GBA1/LRRK2 status on a clinic-wide scale. All patients with visits UPenn Center between 9/2018 12/2022 were eligible. Blood or saliva...
Spread and aggregation of misfolded α-synuclein (aSyn) within the brain is pathologic hallmark Lewy body diseases (LBD), including Parkinson's disease (PD) dementia with bodies (DLB). While evidence exists for multiple aSyn protein conformations, often termed "strains" their distinct biological properties, it unclear whether PD DLB result from strain differences, biomarkers that differentiate are lacking. Moreover, while pathological forms have been detected outside (
This study tested whether monoclonal antibodies generated against in vitro alpha-synuclein (aSyn) strains can serve as biomarkers human biofluids.
<title>Abstract</title> Aggregation of misfolded alpha-synuclein (aSyn) within the brain is pathologic hallmark Lewy body diseases (LBD), including Parkinson’s disease (PD) and dementia with bodies (DLB). Evidence exists for aSyn “strains” – conformations distinct biological properties. However, biomarkers PD vs. DLB, potential strain differences, are lacking. Here, we used two monoclonal antibodies selective different in vitro species termed Strain A B to evaluate human tissue,...
ABSTRACT Objective Using a multi-cohort, Discovery-Replication-Validation design, we sought new plasma biomarkers that predict which PD individuals will experience cognitive decline. Methods In 108 Discovery Cohort and 83 Replication individuals, measured 940 proteins on an aptamer-based platform. associating with subsequent decline in both cohorts, trained logistic regression model to patients showed fast (>=1 point drop/year Montreal Cognitive Assessment (MoCA)) vs. slow (<1 MoCA)...
Frontotemporal lobar degeneration (FTLD) is a leading cause of early-onset dementia, but the pathological mechanisms underlying this disorder are not well understood. Common variants in gene encoding Transmembrane Protein 106B (TMEM106B) increase genetic risk for FTLD with TAR DNA-binding 43 (TDP-43) inclusions (FTLD-TDP-43), and associated increased TMEM106B expression confer greater disease risk. Here, we demonstrate that increases formation enlarged autolysosomes elucidate molecular...