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...

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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:	Artigo
Language:	Inglês
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
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