The Presenilin-1 ΔE9 mutation results in reduced γ-secretase activity, but not total loss of PS1 function, in isogenic human stem cells

Presenilin 1 (PS1) is the catalytic core of γ-secretase, which cleaves type-1 transmembrane proteins including the amyloid precursor protein (APP). PS1 also has γ-secretase independent functions and dominant PS1 missense mutations are the most common cause of familial Alzheimer’s disease (FAD). Whet...

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Huvudupphovsmän: Woodruff, Grace, Young, Jessica E., Martinez, Fernando J., Buen, Floyd, Gore, Athurva, Kinaga, Jennifer, Li, Zhe, Yuan, Shauna H., Zhang, Kun, Goldstein, Lawrence S. B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2013
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3867011/
https://ncbi.nlm.nih.gov/pubmed/24239350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2013.10.018
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