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 › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.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
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
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Biorxiv : the Preprint Server for Biology, 2024
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Genetic Markers of Alzheimer's Disease.
Nikolac Perkovic M et al.
Advances in Experimental Medicine and Biology, 2019
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
Müller U et al.
Journal of Alzheimer's Disease : Jad, 2014
Functional importance of complex formation between the retinoblastoma tumor suppressor family and adenovirus E1A proteins as determined by mutational analysis of E1A conserved region 2.
Corbeil HB et al.
Journal of Virology, 1994
A novel PSEN2 mutation in amnestic early-onset Alzheimer's disease (EOAD): A familial case series.
Leochico CFD et al.
Journal of Alzheimer's Disease Reports, 0
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