Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L241I
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PSEN1

NM_000021.4:p.L241I

Associated Papers

Contribution of the Presenilins in the cell biology, structure and function of γ-secretase.

Escamilla-Ayala A et al.

Seminars in Cell & Developmental Biology, 2020

Specific mutations in presenilin 1 cause conformational changes in γ-secretase to modulate amyloid β trimming.

Imai S et al.

Journal of Biochemistry, 2019

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."