Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits.
Küçükali F et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
Enzyme-substrate interface targeting by imidazole-based γ-secretase modulators activates γ-secretase and stabilizes its interaction with APP.
Petit D et al.
The Embo Journal, 2022
36121025 (PubMed )
Supplement: EMBJ-41-e111084-s001.pdf
Specific mutations in presenilin 1 cause conformational changes in γ-secretase to modulate amyloid β trimming.
Imai S et al.
Journal of Biochemistry, 2019
Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.
Futai E et al.
The Journal of Biological Chemistry, 2009
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