Edward A. Fon

The paper uses machine learning to identify candidate genes, variants, and pathways potentially linked to Parkinson's disease from GWAS loci and genomic data.

The paper shows that combining α-synuclein fibrils with immune challenges causes Lewy body-like inclusions in human dopaminergic neurons, while cortical neurons do not form such inclusions.

The paper develops a flow cytometry pipeline called CelltypeR to annotate and characterize cell types in brain organoids, identifying dopamine neuron subtypes and tracking cell type dynamics over time.

This study identifies neuroanatomical and cognitive biomarkers of alpha-synuclein propagation in a mouse model, showing early cognitive deficits and brain atrophy linked to prion-like spread of misfolded alpha-synuclein.

The paper generates PRKN and PINK1-KO and double KO human iPSC lines using CRISPR/Cas9 to model Parkinson's disease.

The paper develops a mass spectrometry-based method to measure protein turnover in human induced pluripotent stem cell organoids, comparing results to primary cell cultures and in vivo models.

This study uses midbrain organoids from SNCA triplication patients to model synucleinopathy features, showing increased alpha-synuclein expression and aggregation linked to dopaminergic neuron loss.

This study develops microfabricated disks to scale up midbrain organoid generation, reducing labor and variability while maintaining viability for Parkinson's disease research.

This study sequenced five genes in PD patients and controls, finding no significant association with Parkinson's Disease after multiple comparisons.

This study examines the association between heterozygous PRKN variants and Parkinson's disease risk and onset, finding no significant associations.

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

The paper investigates the role of VPS13C variants in late-onset Parkinson disease, finding no significant association with rare variants but a nominal association with a haplotype.

The paper identifies rare variants in PRKN and LRRK2 associated with leprosy type-1 reactions and finds overlap with Parkinson’s disease pathogenic mechanisms.

The paper classifies Parkin variants into functional groups based on their impact on mitophagy and stability, revealing potential therapeutic targets for Parkinson’s disease.