APOER2 splicing repertoire in Alzheimer's disease: Insights from long-read RNA sequencing.

ABSTRACT: Disrupted alternative splicing plays a determinative role in neurological diseases, either as a direct cause or as a driver in disease susceptibility. Transcriptomic profiling of aged human postmortem brain samples has uncovered hundreds of aberrant mRNA splicing events in Alzheimer's disease (AD) brains, associating dysregulated RNA splicing with disease. We previously identified a complex array of alternative splicing combinations across apolipoprotein E receptor 2 (APOER2), a transmembrane receptor that interacts with both the neuroprotective ligand Reelin and the AD-associated risk factor, APOE. Many of the human APOER2 isoforms, predominantly featuring cassette splicing events within functionally important domains, are critical for the receptor's function and ligand interaction. Howev

SUBMITTER: Gallo CM 

PROVIDER: S-EPMC11293713 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature