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Presenilin-1 mutations and Alzheimer's disease.

作者信息

Kelleher Raymond J, Shen Jie

机构信息

Department of Neurology, Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114.

Program in Neuroscience, Harvard Medical School, Boston, MA 02115.

出版信息

Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):629-631. doi: 10.1073/pnas.1619574114. Epub 2017 Jan 12.

Abstract
摘要

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本文引用的文献

1
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E476-E485. doi: 10.1073/pnas.1618657114. Epub 2016 Dec 5.
2
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
Neuron. 2016 Apr 20;90(2):417-22. doi: 10.1016/j.neuron.2016.03.009.
3
The amyloid hypothesis of Alzheimer's disease at 25 years.
EMBO Mol Med. 2016 Jun 1;8(6):595-608. doi: 10.15252/emmm.201606210. Print 2016 Jun.
4
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Mol Psychiatry. 2016 Jul;21(7):916-24. doi: 10.1038/mp.2015.177. Epub 2015 Dec 1.
5
An atomic structure of human γ-secretase.
Nature. 2015 Sep 10;525(7568):212-217. doi: 10.1038/nature14892. Epub 2015 Aug 17.
6
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
Neuron. 2015 Mar 4;85(5):967-81. doi: 10.1016/j.neuron.2015.02.010.
7
Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis.
Neurology. 2014 Jul 15;83(3):253-60. doi: 10.1212/WNL.0000000000000596. Epub 2014 Jun 13.
8
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
J Neurosci. 2013 Jul 10;33(28):11606-17. doi: 10.1523/JNEUROSCI.0954-13.2013.

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