Anastasia G. Efthymiou

This study shows the G2019S LRRK2 mutation alters transcriptomes of myeloid cells under proinflammatory conditions, affecting lipid metabolism and phagocytic function.

The paper analyzes RNA editing in myeloid cells under inflammatory stimulation, finding that C-to-U editing has a larger effect on proteome recoding compared to A-to-I editing.

The paper presents a long-read RNA-seq atlas of microglia isoforms, identifying novel isoforms and their associations with genetic risk loci in Alzheimer's and Parkinson's disease.

This study integrates Alzheimer’s disease GWAS with myeloid epigenomic data to identify risk enhancers and causal genes, implicating myeloid endolysosomal dysfunction in AD pathogenesis.

The paper identifies neurodegenerative disease-specific trans-eQTLs by analyzing gene expression in stimulated monocytes and macrophages using tensor decomposition.