PABPN1 Loss-of-Function Causes APA-Shift in Oculopharyngeal Muscular Dystrophy

Scientists developed a procedure including RNA library preparation and a simple pipeline calculating alternative polyadenylation (APA)-shift ratio as a readout for PABPN1 activity. Comparing APA-shift resulted to previously published PAS utilization and APA-shift results, investigators validated this procedure.