Mutations that increase LRRK2 kinase activity have been linked to Parkinson’s disease and Crohn’s disease. LRRK2 is also activated by lysosome damage evoked by chemical and pathogenic stimuli. However, the endogenous cellular mechanisms that…
Tau protein's role in Alzheimer's disease was studied by introducing a human tau mutation into Drosophila using CRISPR. Single-cell RNA sequencing helped identify genes and pathways involved in tauopathy.
An R package for investigating Cell Type specific regulatory genetics using single cell or nuclei allele specific expression data. It loads ASE pipeline output, performs ASE analysis, and works with various ASE pipelines.