Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G111A
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PSEN1

NM_000021.4:p.G111A

Associated Papers

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

Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

Liu L et al.

The Journal of Biological Chemistry, 0

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