Ontology highlight
ABSTRACT:
SUBMITTER: Xia D
PROVIDER: S-EPMC4358812 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Xia Dan D Watanabe Hirotaka H Wu Bei B Lee Sang Hun SH Li Yan Y Tsvetkov Evgeny E Bolshakov Vadim Y VY Shen Jie J Kelleher Raymond J RJ
Neuron 20150301 5
Presenilins play essential roles in memory formation, synaptic function, and neuronal survival. Mutations in the Presenilin-1 (PSEN1) gene are the major cause of familial Alzheimer's disease (FAD). How PSEN1 mutations cause FAD is unclear, and pathogenic mechanisms based on gain or loss of function have been proposed. Here, we generated Psen1 knockin (KI) mice carrying the FAD mutation L435F or C410Y. Remarkably, KI mice homozygous for either mutation recapitulate the phenotypes of Psen1(-/-) mi ...[more]