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
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
Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.
Takeo K et al.
The Journal of Biological Chemistry, 2012
Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.
Nelson O et al.
The Journal of Biological Chemistry, 2011
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
19254953 (PubMed )
Supplement: M807653200_2.pdf
Transmembrane domain 9 of presenilin determines the dynamic conformation of the catalytic site of gamma-secretase.
Tolia A et al.
The Journal of Biological Chemistry, 2008
The C-terminal PAL motif and transmembrane domain 9 of presenilin 1 are involved in the formation of the catalytic pore of the gamma-secretase.
Sato C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008
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