Mutations in PSEN1 predispose inflammation in an astrocyte model of familial Alzheimer's disease through disrupted regulated intramembrane proteolysis
Summary
Together, these data suggest that mutations in PSEN1 enhance cytokine signalling via impaired regulated intramembrane proteolysis, thereby predisposing astrocytic inflammatory profiles. These findings support a two-hit contribution of PSEN1 mutations to fAD pathogenesis, not only impacting APP and Aβ processing but also altering the cellular response to inflammation. © 2025. The Author(s).
| Authors | Ziff OJ, Parfitt GM, Jolly S, Casey JM, Granat L, Samra S, Setó-Salvia N, Alatza A, Phadke L, Galet B, Ravassard P, Potier MC, Hardy J, Salih DA, Whiting P, Ducotterd F, Patani R, Wray S, Arber C |
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| Journal | Molecular neurodegeneration |
| Publication Date | 2025 Jun 20;20(1):73 |
| PubMed | 40542358 |
| PubMed Central | PMC12181884 |
| DOI | 10.1186/s13024-025-00864-7 |