ArticleStem cell reports2023
Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.
Article in Stem cell reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic frontotemporal degeneration across the lifespan? A critical appraisal of the neurodevelopmental hypothesis.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Review
- Persistent sheaf Laplacian analysis of protein stability and solubility changes upon mutation.Protein science : a publication of the Protein Society · 2026Article
- Recapitulation of plaque formation, tau pathology, and neurodegeneration in a human 3D matrix model of Alzheimer's disease.Cell reports methods · 2026Article
- Comparative analyses of regional and temporal transcriptomics of early human and mouse central nervous systems.iScience · 2026Article
- Single-cell RNA sequencing reveals disease associated changes in brain endothelial cells in the 5XFAD mouse.Fluids and barriers of the CNS · 2026Article
- Dual developmental effects of ARX poly-alanine mutations on human cortical excitatory and inhibitory neurons.Cell reports · 2026Article
- Stem cells strike back: advancements in Alzheimer's and Parkinson's disease treatment and modeling efforts from 2019 to 2024.Journal of molecular medicine (Berlin, Germany) · 2025Review
- Neuroengineering Frontiers: A Selective Review of Neural Interfaces, Brain-Machine Interactions, and Artificial Intelligence in Neurodegenerative Diseases.Applied sciences (Basel, Switzerland) · 2025Article
- Article
- Beyond linear: How circRNAs twist and turn Notch signaling.Journal of cell communication and signaling · 2025Review
- APOE4 impacts cortical neurodevelopment and alters network formation in human brain organoids.Stem cell reports · 2025Article
- Intervertebral disc impairments in a mouse model of Alzheimer's Disease.bioRxiv : the preprint server for biology · 2025Article
- Identification of therapeutic targets for Alzheimer's Disease Treatment using bioinformatics and machine learning.Scientific reports · 2025Article
- Mitochondrial and ER stress crosstalk in TBI: mechanistic insights and therapeutic opportunities.Frontiers in cellular neuroscience · 2025Review
- Microglial APOE3 Christchurch protects neurons from Tau pathology in a human iPSC-based model of Alzheimer's disease.Cell reports · 2024Article
- Approaches for studying neuroimmune interactions in Alzheimer's disease.Trends in immunology · 2024Review
- Single-Cell Patch-Clamp/Proteomics of Human Alzheimer's Disease iPSC-Derived Excitatory Neurons Versus Isogenic Wild-Type Controls Suggests Novel Causation and Therapeutic Targets.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Investigation of the Circular Transcriptome in Alzheimer's Disease Brain.Journal of molecular neuroscience : MN · 2024Article
- The presenilin 1 mutation P436S causes familial Alzheimer's disease with elevated Aβ43 and atypical clinical manifestations.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Beyond amyloid and tau: rethinking Alzheimer's disease through less explored avenues.Open biology · 2024Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Alzheimer's disease (AD) is the most common neurodegenerative disorder, but its root cause may lie in neurodevelopment. PSEN1 mutations cause the majority of familial AD, potentially by disrupting proper Notch signaling, causing early unnoticed cellular changes that affect later AD progression. While rodent models are useful for modeling later stages of AD, human induced pluripotent stem cell-derived cortical spheroids (hCSs) allow access to studying the human cortex at the cellular level over the course of development. Here, we show that the PSEN1 L435F heterozygous mutation affects hCS development, increasing size, increasing progenitors, and decreasing post-mitotic neurons as a result of increased Notch target gene expression during early hCS development. We also show altered Aβ expression and neuronal activity at later hCS stages. These results contrast previous findings, showing how individual PSEN1 mutations may differentially affect neurodevelopment and may give insight into fAD progression to provide earlier time points for more effective treatments.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.