Associated Papers
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
Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Han LH et al.
Clinical Interventions in Aging, 2020
Introduction of pathogenic mutations into the mouse Psen1 gene by Base Editor and Target-AID.
Sasaguri H et al.
Nature Communications, 2018
C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.
Wang J et al.
Journal of Neurochemistry, 2006
Conserved "PAL" sequence in presenilins is essential for gamma-secretase activity, but not required for formation or stabilization of gamma-secretase complexes.
Wang J et al.
Neurobiology of Disease, 2004
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