Kerri J. Kinghorn

The paper identifies a distal regulatory variant on a shared haplotype that drives neuroinflammatory pathways in GBA1-associated Parkinson's disease, explaining how GBA1 variants increase PD risk.

This study shows that redox imbalance in Drosophila models of Gaucher and Parkinson's disease leads to renal dysfunction, which contributes to systemic decline and neurodegeneration.

The paper identifies reduced PUFA levels in FTD/ALS models and shows neuronal PUFA supplementation improves survival and reduces neuronal death.

This study identifies Smpd1's role in tracheal gas-filling in Drosophila embryos by regulating ceramide-specific chitin-clearance, showing that lipid metabolism defects contribute to respiratory dysfunction.

This study shows that Gba1 deletion in flies causes immune hyperactivation and microbial dysbiosis, which can be mitigated by microbiome modulation or autophagy stimulation.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.