Discovery and validation of autosomal dominant Alzheimer’s disease mutations

Discovery and validation of autosomal dominant Alzheimer’s disease mutations

Abstract Background Alzheimer’s disease (AD) is a neurodegenerative disease that is clinically characterized by progressive cognitive decline. Mutations in amyloid-β precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) are the pathogenic cause of autosomal dominant AD (ADAD). Howe...

Full description

Bibliographic Details
Main Authors: Simon Hsu, Brian A. Gordon, Russ Hornbeck, Joanne B. Norton, Denise Levitch, Adia Louden, Ellen Ziegemeier, Robert Laforce, Jasmeer Chhatwal, Gregory S. Day, Eric McDade, John C. Morris, Anne M. Fagan, Tammie L. S. Benzinger, Alison M. Goate, Carlos Cruchaga, Randall J. Bateman, Dominantly Inherited Alzheimer Network (DIAN), Celeste M. Karch
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Alzheimer’s Research & Therapy
Subjects:
APP
PSEN1
PSEN2
Autosomal dominant Alzheimer’s disease
Cell-based assays
Pathogenicity algorithm
Online Access:http://link.springer.com/article/10.1186/s13195-018-0392-9

Internet

http://link.springer.com/article/10.1186/s13195-018-0392-9

Similar Items