A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report

PSEN1, PSEN2 , and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease

(2020) Longfei Jia et al.   Alzheimers & Dementia

Contribution of the Presenilins in the cell biology, structure and function of γ-secretase

(2020) Abril Escamilla-Ayala et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Presenilins and γ-Secretase in Membrane Proteostasis

(2019) Naoto Oikawa et al.   Cells

Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta

(2019) Charles Arber et al.   MOLECULAR PSYCHIATRY

Structural basis of Notch recognition by human γ-secretase

(2018) Guanghui Yang et al.   NATURE

Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool

(2016) Ragna Sannerud et al.   CELL

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

Probable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer's disease

(2015) Mingrong Xia et al.   NEUROBIOLOGY OF AGING

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

(2015) Dan Xia et al.   NEURON

Signature Amyloid β Profiles Are Produced by Different γ-Secretase Complexes

(2013) Hermien Acx et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Index of Alpha/Theta Ratio of the Electroencephalogram: A New Marker for Alzheimer’s Disease

(2013) Magali T. Schmidt et al.   Frontiers in Aging Neuroscience

The diagnosis of dementia due to Alzheimer’s disease: Recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer's disease

(2011) Guy M. McKhann et al.   Alzheimers & Dementia

Dissociation between the Processivity and Total Activity of γ-Secretase: Implications for the Mechanism of Alzheimer's Disease-Causing Presenilin Mutations

(2011) Omar Quintero-Monzon et al.   BIOCHEMISTRY

Novel Research Horizons for Presenilins and γ-Secretases in Cell Biology and Disease

(2010) Bart De Strooper et al.   Annual Review of Cell and Developmental Biology

Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2

(2010) Suman Jayadev et al.   BRAIN

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

The C-Terminal PAL Motif and Transmembrane Domain 9 of Presenilin 1 Are Involved in the Formation of the Catalytic Pore of the  -Secretase

(2008) C. Sato et al.   JOURNAL OF NEUROSCIENCE