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Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.γ-分泌酶功能丧失突变体通过异寡聚化对野生型酶产生显性负效应。
Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12731-12736. doi: 10.1073/pnas.1713605114. Epub 2017 Oct 9.
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An Evolutionarily Conserved Role of Presenilin in Neuronal Protection in the Aging Brain.早老素在衰老大脑神经元保护中的进化保守作用
Genetics. 2017 Jul;206(3):1479-1493. doi: 10.1534/genetics.116.196881. Epub 2017 May 11.
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Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.早老素-1中138个致病突变对γ-分泌酶体外产生Aβ42和Aβ40肽的影响分析。
Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):E476-E485. doi: 10.1073/pnas.1618657114. Epub 2016 Dec 5.
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Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.敲入小鼠大脑中早老素-1突变导致Aβ43生成缺失。
Neuron. 2016 Apr 20;90(2):417-22. doi: 10.1016/j.neuron.2016.03.009.
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An atomic structure of human γ-secretase.人类γ-分泌酶的原子结构。
Nature. 2015 Sep 10;525(7568):212-217. doi: 10.1038/nature14892. Epub 2015 Aug 17.
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Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.早老素-1基因敲入小鼠揭示了家族性阿尔茨海默病的功能丧失机制。
Neuron. 2015 Mar 4;85(5):967-81. doi: 10.1016/j.neuron.2015.02.010.
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Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex.早老素部分缺失会损害大脑皮层中与年龄相关的神经元存活。
J Neurosci. 2014 Nov 26;34(48):15912-22. doi: 10.1523/JNEUROSCI.3261-14.2014.
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Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.致病性 PSEN1 突变对 γ-分泌酶活性和 Aβ 产生的显性负效应。
J Neurosci. 2013 Jul 10;33(28):11606-17. doi: 10.1523/JNEUROSCI.0954-13.2013.
9
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.在伴有棉绒斑的家族性阿尔茨海默病中发现的早老素-1 突变导致γ-分泌酶活性几乎完全丧失。
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Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice.早老素条件性突变小鼠皮质神经元进行性退变的年龄依赖性特征。
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Dominant negative mechanism of mutations in FAD.

作者信息

Watanabe Hirotaka, Shen Jie

机构信息

Department of Physiology, Keio University School of Medicine, Tokyo, 160-8582, Japan.

Department of Neurology, Brigham & Women's Hospital, Program in Neuroscience, Harvard Medical School, Boston, MA 02115

出版信息

Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12635-12637. doi: 10.1073/pnas.1717180114. Epub 2017 Nov 15.

DOI:10.1073/pnas.1717180114
PMID:29142009
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5715794/
Abstract
摘要