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.
Abstract
摘要
相似文献
1
Dominant negative mechanism of mutations in FAD.
Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12635-12637. doi: 10.1073/pnas.1717180114. Epub 2017 Nov 15.
2
Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease.
Neurobiol Aging. 2019 May;77:154-157. doi: 10.1016/j.neurobiolaging.2019.01.018. Epub 2019 Jan 31.
3
A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences.
J Formos Med Assoc. 2016 Feb;115(2):67-75. doi: 10.1016/j.jfma.2015.08.004. Epub 2015 Aug 31.
4
[Genetics of dementias, Part 4: a spectrum of mutations responsible for the familial autosomal dominant form of Alzheimer's disease].
Postepy Hig Med Dosw (Online). 2009 Dec 1;63:583-91.
5
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
J Neurosci. 2022 Feb 23;42(8):1574-1586. doi: 10.1523/JNEUROSCI.2039-21.2021. Epub 2022 Jan 5.
6
[Familial Alzheimer disease].
Nihon Rinsho. 2011 Dec;69 Suppl 10 Pt 2:246-51.
7
Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.
Neurobiol Dis. 2020 May;138:104785. doi: 10.1016/j.nbd.2020.104785. Epub 2020 Feb 4.
8
Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta.
J Biol Chem. 2008 Jun 13;283(24):16488-96. doi: 10.1074/jbc.M801279200. Epub 2008 Apr 21.
9
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Arch Neurol. 2003 Nov;60(11):1541-4. doi: 10.1001/archneur.60.11.1541.
10
Presenilin-1 mutations and Alzheimer's disease.
Proc Natl Acad Sci U S A. 2017 Jan 24;114(4):629-631. doi: 10.1073/pnas.1619574114. Epub 2017 Jan 12.
引用本文的文献
1
Cell-specific copper dyshomeostasis mechanism in Alzheimer's disease.
Transl Neurodegener. 2025 Aug 22;14(1):42. doi: 10.1186/s40035-025-00504-6.
2
Cell-autonomous role of leucine-rich repeat kinase in the protection of dopaminergic neuron survival.
Elife. 2024 Jun 10;12:RP92673. doi: 10.7554/eLife.92673.
3
Combination of Tramiprosate, Curcumin, and SP600125 Reduces the Neuropathological Phenotype in Familial Alzheimer Disease PSEN1 I416T Cholinergic-like Neurons.
Int J Mol Sci. 2024 Apr 30;25(9):4925. doi: 10.3390/ijms25094925.
4
Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in mutant mice.
Proc Natl Acad Sci U S A. 2023 Oct 17;120(42):e2306714120. doi: 10.1073/pnas.2306714120. Epub 2023 Oct 10.
5
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.
J Hum Genet. 2023 Oct;68(10):689-697. doi: 10.1038/s10038-023-01170-0. Epub 2023 Jun 12.
6
Presenilin Deficiency Increases Susceptibility to Oxidative Damage in Fibroblasts.
Front Aging Neurosci. 2022 Jun 16;14:902525. doi: 10.3389/fnagi.2022.902525. eCollection 2022.
7
Emerging Electroencephalographic Biomarkers to Improve Preclinical to Clinical Translation in Alzheimer's Disease.
Front Aging Neurosci. 2022 Feb 17;14:805063. doi: 10.3389/fnagi.2022.805063. eCollection 2022.
8
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
J Neurosci. 2022 Feb 23;42(8):1574-1586. doi: 10.1523/JNEUROSCI.2039-21.2021. Epub 2022 Jan 5.
9
Presenilin mutations and their impact on neuronal differentiation in Alzheimer's disease.
Neural Regen Res. 2022 Jan;17(1):31-37. doi: 10.4103/1673-5374.313016.
10
Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.
Am J Pathol. 2021 Nov;191(11):1856-1870. doi: 10.1016/j.ajpath.2021.03.015. Epub 2021 Apr 22.
本文引用的文献
1
Dominant negative effect of the loss-of-function γ-secretase mutants on the wild-type enzyme through heterooligomerization.
Proc Natl Acad Sci U S A. 2017 Nov 28;114(48):12731-12736. doi: 10.1073/pnas.1713605114. Epub 2017 Oct 9.
2
An Evolutionarily Conserved Role of Presenilin in Neuronal Protection in the Aging Brain.
Genetics. 2017 Jul;206(3):1479-1493. doi: 10.1534/genetics.116.196881. Epub 2017 May 11.
3
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.
4
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.
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
Partial loss of presenilin impairs age-dependent neuronal survival in the cerebral cortex.
J Neurosci. 2014 Nov 26;34(48):15912-22. doi: 10.1523/JNEUROSCI.3261-14.2014.
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.
9
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.
J Biol Chem. 2010 Jul 16;285(29):22350-9. doi: 10.1074/jbc.M110.116962. Epub 2010 May 11.
10
Characterization of age-dependent and progressive cortical neuronal degeneration in presenilin conditional mutant mice.
PLoS One. 2010 Apr 15;5(4):e10195. doi: 10.1371/journal.pone.0010195.
Zotero 插件