Alternative splicing in a presenilin 2 variant associated with Alzheimer disease

Abstract excerpt

Abstract Objective Autosomal‐dominant familial Alzheimer disease (AD) is caused by by variants in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP). Previously, we reported a rare PSEN2 frameshift variant in an early‐onset AD case (PSEN2 p.K115Efs*11). In this study, we characterize a second family with the same variant and analyze cellular transcripts from both patient fibroblasts...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Alzheimer's disease research and treatments
• Share to Amyloidosis: Diagnosis, Treatment, Outcomes
• Share to Prion Diseases and Protein Misfolding