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A Presenilin-1 Mutation Identified in Familial Alzheimer Disease with Cotton Wool Plaques Causes a Nearly Complete Loss of γ-Secretase Activity

Mutations in presenilin-1 and presenilin-2 (PS1 and PS2) are the most common cause of familial Alzheimer disease. PS1 and PS2 are the presumptive catalytic components of the multisubunit γ-secretase complex, which proteolyzes a number of type I transmembrane proteins, including the amyloid precursor...

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Bibliografiske detaljer
Main Authors: Heilig, Elizabeth A., Xia, Weiming, Shen, Jie, Kelleher, Raymond J.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2010
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2903357/
https://ncbi.nlm.nih.gov/pubmed/20460383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.116962
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