Karishma D’Sa

This study shows that the SNCA A53T mutation increases vulnerability to ferroptosis in neurons and microglia, suggesting 15-LO inhibition as a potential therapeutic target for Parkinson's disease.

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

The paper identifies microglial activation and alpha-synuclein oligomers as drivers of early neuroinflammation in Parkinson's disease using transcriptomic and aggregate profiling in early-stage brain samples.

The paper shows that astrocytic RNA editing via ADAR1 modulates immune responses to alpha-synuclein, contributing to neuroinflammation in Parkinson's disease.

This study shows GLP-1R agonism improves Parkinson's disease by restoring neuronal insulin signaling and reducing glial inflammation, with clinical benefits in patients with higher baseline MAPK expression.

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

The paper shows that a significant portion of gene expression regulation in the human brain occurs post-transcriptionally in the cytoplasm, particularly for synaptic genes.

The paper identifies 38 genes regulating a-synuclein cell-to-cell transfer using an siRNA screen and shows genetic overlap with Parkinson's disease.

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 and validates novel transcription regions across tissues, improving gene annotation for 63% of OMIM-morbid genes and highlights tissue-specific and functionally significant variants.

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.

ERASE assesses enrichment of GWAS risk loci in ASE data and identifies splicing-related ASEs associated with Parkinson's disease.

The paper develops a machine learning model to predict genes causing rare neurological disorders and shows it accurately identifies disease-associated genes.