Presenilin-1 mutations and Alzheimer’s disease

The amyloid hypothesis of Alzheimer's disease at 25 years

(2016) Dennis J Selkoe et al.   EMBO Molecular Medicine

Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain

(2016) Dan Xia et al.   NEURON

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase

(2016) Linfeng Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer’s disease

(2015) J I Vélez et al.   MOLECULAR PSYCHIATRY

An atomic structure of human γ-secretase

(2015) Xiao-chen Bai et al.   NATURE

Presenilin-1 Knockin Mice Reveal Loss-of-Function Mechanism for Familial Alzheimer’s Disease

(2015) Dan Xia et al.   NEURON

Symptom onset in autosomal dominant Alzheimer disease: A systematic review and meta-analysis

(2014) D. C. Ryman et al.   NEUROLOGY

Trans-Dominant Negative Effects of Pathogenic PSEN1 Mutations on  -Secretase Activity and A  Production

(2013) E. A. Heilig et al.   JOURNAL OF NEUROSCIENCE

Conditional Deletion ofNotch1andNotch2Genes in Excitatory Neurons of Postnatal Forebrain Does Not Cause Neurodegeneration or Reduction of Notch mRNAs and Proteins

(2012) Jin Zheng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Familial Frontotemporal Dementia-Associated Presenilin-1 c.548G>T Mutation Causes Decreased mRNA Expression and Reduced Presenilin Function in Knock-In Mice

(2012) H. Watanabe et al.   JOURNAL OF NEUROSCIENCE

A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity

(2010) Elizabeth A. Heilig et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of Age-Dependent and Progressive Cortical Neuronal Degeneration in Presenilin Conditional Mutant Mice

(2010) Mary Wines-Samuelson et al.   PLoS One