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
Association of rare APOE missense variants with Alzheimer's disease in the Japanese population.
Miyashita A et al.
Journal of Alzheimer's Disease : Jad, 2025
40397079 (PubMed )
Supplement: sj-xlsx-2-alz-10.1177_13872877251340710.xlsx › SuppleT5
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
Rare A360T Mutation Alters GSK3β(Ser9) Binding in the Cytosolic Loop of Presenilin 1, Influencing β-Catenin Nuclear Localization and Pro-Death Gene Expression in Alzheimer's Disease Case.
Wężyk M et al.
International Journal of Molecular Sciences, 2023
Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Grigorenko AP et al.
Oncotarget, 2017
Presenilin/gamma-secretase cleaves CD46 in response to Neisseria infection.
Weyand NJ et al.
Journal of Immunology (baltimore, Md. : 1950), 2010
Conserved residues within the putative active site of gamma-secretase differentially influence enzyme activity and inhibitor binding.
Wrigley JD et al.
Journal of Neurochemistry, 2004
Presenilin mutations associated with fronto-temporal dementia.
Hutton M
Annals of Neurology, 2004
Presenilin 1 regulates beta-catenin-mediated transcription in a glycogen synthase kinase-3-independent fashion.
Palacino JJ et al.
The Journal of Biological Chemistry, 2001
Presenilin 1 regulates pharmacologically distinct gamma -secretase activities. Implications for the role of presenilin in gamma -secretase cleavage.
Murphy MP et al.
The Journal of Biological Chemistry, 2000
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