Associated Papers
Mitochondrial dysfunction and Ca2+ dysregulation in human iPSC-derived neurons carrying presenilin-1 mutation arise under stress via an MCU-1-independent mechanism.
Wilson C et al.
Scientific Reports, 2026
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Advances in the cell biology of the trafficking and processing of amyloid precursor protein: impact of familial Alzheimer's disease mutations.
Wang J et al.
The Biochemical Journal, 2024
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
The transcriptomic landscape of neurons carrying PSEN1 mutations reveals changes in extracellular matrix components and non-coding gene expression.
Corsi GI et al.
Neurobiology of Disease, 2023
Golgi fragmentation - One of the earliest organelle phenotypes in Alzheimer's disease neurons.
Haukedal H et al.
Frontiers in Neuroscience, 2023
An internal docking site stabilizes substrate binding to γ-secretase: Analysis by molecular dynamics simulations.
Chen SY et al.
Biophysical Journal, 2022
Neuronal α-amylase is important for neuronal activity and glycogenolysis and reduces in presence of amyloid beta pathology.
Byman E et al.
Aging Cell, 2021
Induced pluripotent stem cells (iPSCs) as game-changing tools in the treatment of neurodegenerative disease: Mirage or reality?
Yousefi N et al.
Journal of Cellular Physiology, 2020
Using human induced pluripotent stem cells (hiPSCs) to investigate the mechanisms by which Apolipoprotein E (APOE) contributes to Alzheimer's disease (AD) risk.
Raman S et al.
Neurobiology of Disease, 2020
Opportunities and challenges for the use of induced pluripotent stem cells in modelling neurodegenerative disease.
Wu YY et al.
Open Biology, 2019
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Neurons derived from sporadic Alzheimer's disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation.
Ochalek A et al.
Alzheimer's Research & Therapy, 2017
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
Park J et al.
Neurobiology of Aging, 2017
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Generation of a gene-corrected isogenic control hiPSC line derived from a familial Alzheimer's disease patient carrying a L150P mutation in presenilin 1.
Poon A et al.
Stem Cell Research, 2016
Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying a L150P mutation in PSEN-1.
Tubsuwan A et al.
Stem Cell Research, 2016
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 2012
Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.
Nelson O et al.
The Journal of Biological Chemistry, 2011
Transmembrane domain 9 of presenilin determines the dynamic conformation of the catalytic site of gamma-secretase.
Tolia A et al.
The Journal of Biological Chemistry, 2008
Contribution of presenilin transmembrane domains 6 and 7 to a water-containing cavity in the gamma-secretase complex.
Tolia A et al.
The Journal of Biological Chemistry, 2006