%0 Journal Article
%T Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
%A Bryce Sopher
%A Caitlin Latimer
%A Carole L. Smith
%A Chizuru Kinoshita
%A Chloe Cross
%A Christina Caso
%A Christopher Dirk Keene
%A Debby Tsuang
%A Ellen M. Wijsman
%A Gwenn A. Garden
%A Jacquelyn E. Braggin
%A James B. Leverenz
%A Jessica E. Young
%A Kathryn P. Scherpelz
%A Kiel D. Shuey
%A Kimiko Domotoİ\Reilly
%A Kristoffer Rhoads
%A Leah Osnis
%A Luis F. Gonzalezİ\Cuyar
%A Meredith M. Course
%A Michael Lardelli
%A Michael O. Dorschner
%A Morgan Newman
%A Paul N. Valdmanis
%A Richard S. Morrison
%A Seyyed H. M. Nik
%A Stephanie A. Bucks
%A Thomas D. Bird
%A Thomas Grabowski
%J Archive of "Annals of Clinical and Translational Neurology".
%D 2019
%R 10.1002/acn3.755
%X Autosomalİ\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 earlyİ\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 and brain lysates
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469258/