Publications:

A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.

The Journal Of Biological Chemistry

Heilig, Elizabeth A EA; Xia, Weiming W; Shen, Jie J; Kelleher, Raymond J RJ

Publication Date: 2010-07-16

Variant appearance in text: PS1: A434D

PubMed Link: 20460383

Variant Present in the following documents:

• Main text

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Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Current Genomics

Fraering, Patrick C PC

Publication Date: 2007-12

Variant appearance in text: PS1: A434D

PubMed Link: 19415127

Variant Present in the following documents:

• Main text
• CG-8-531.pdf

View BVdb publication page