The bridge-like lipid transfer protein, BLTP3A/UHRF1BP1, anchors VAMP7-positive vesicles to lysosomes and acts as an effector of CASM potentially to aid in the repair or mitigation of lysosomal damage.
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.