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Human DDIT4L intron retention contributes to cognitive impairment and amyloid plaque formation.

作者信息

Li Kai-Cheng, Shi Hai-Xiang, Li Zhen, You Pu, Pan Jing, Cai Yi-Chuan, Li Jin-Wen, Ma Xue-Fei, Zhang Shuo, Diao Lei, Cai Bing, Wang Hai-Bo, Chen Liang, Mao Ying, Zhang Xu

机构信息

QuietD Biotech, Shanghai, China.

Shanghai Advanced Research Institute, Chinese Academy of Sciences, Shanghai, China.

出版信息

Cell Discov. 2025 Feb 11;11(1):12. doi: 10.1038/s41421-024-00759-9.

DOI:10.1038/s41421-024-00759-9
PMID:39929796
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11811001/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e47e/11811001/20fea006c061/41421_2024_759_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e47e/11811001/20fea006c061/41421_2024_759_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e47e/11811001/20fea006c061/41421_2024_759_Fig1_HTML.jpg

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Human DDIT4L intron retention contributes to cognitive impairment and amyloid plaque formation.人类DDIT4L内含子保留会导致认知障碍和淀粉样斑块形成。
Cell Discov. 2025 Feb 11;11(1):12. doi: 10.1038/s41421-024-00759-9.
2
DDiT4L promotes autophagy and inhibits pathological cardiac hypertrophy in response to stress.DDiT4L通过应激反应促进自噬并抑制病理性心肌肥大。
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Truncated Tau caused by intron retention is enriched in Alzheimer's disease cortex and exhibits altered biochemical properties.内含子保留导致的截断 Tau 在阿尔茨海默病皮层中富集,并表现出改变的生化特性。
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Regional brain amyloid-β accumulation associates with domain-specific cognitive performance in Parkinson disease without dementia.在无痴呆的帕金森病中,局部脑区淀粉样β蛋白积聚与特定领域的认知表现相关。
PLoS One. 2017 May 25;12(5):e0177924. doi: 10.1371/journal.pone.0177924. eCollection 2017.
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DDIT4L regulates mitochondrial and innate immune activities in early life.DDIT4L 调节生命早期的线粒体和固有免疫活性。
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Elevated Tau PET Signal Depends on Abnormal Amyloid Levels and Correlates with Cognitive Impairment in Elderly Persons without Dementia.tau PET 信号升高取决于异常淀粉样蛋白水平,并与无痴呆的老年人认知障碍相关。
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Accumulation of amyloid in cognitive impairment after mild traumatic brain injury.轻度创伤性脑损伤后认知障碍中淀粉样蛋白的积累。
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Amyloid is linked to cognitive decline in patients with Parkinson disease without dementia.淀粉样蛋白与无痴呆的帕金森病患者的认知能力下降有关。
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Blockade of brain alkaline phosphatase efficiently reduces amyloid-β plaque burden and associated cognitive impairment.脑碱性磷酸酶阻断能有效减少淀粉样β斑块负担并改善相关认知障碍。
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引用本文的文献

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Intron Retention: A Reemerging Paradigm in RNA Biology and Post-Transcriptional Gene Regulation.内含子保留:RNA生物学和转录后基因调控中重新出现的范式
Genes (Basel). 2025 Aug 21;16(8):986. doi: 10.3390/genes16080986.
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Retained introns in phototransduction genes of 5xFAD mouse retina suggest vision impairment as an early diagnostic marker for Alzheimer's disease.5xFAD小鼠视网膜光转导基因中保留的内含子表明,视力损害是阿尔茨海默病的早期诊断标志物。
Sci Rep. 2025 Jul 15;15(1):25523. doi: 10.1038/s41598-025-11065-z.

本文引用的文献

1
Truncated Tau caused by intron retention is enriched in Alzheimer's disease cortex and exhibits altered biochemical properties.内含子保留导致的截断 Tau 在阿尔茨海默病皮层中富集,并表现出改变的生化特性。
Proc Natl Acad Sci U S A. 2022 Sep 13;119(37):e2204179119. doi: 10.1073/pnas.2204179119. Epub 2022 Sep 6.
2
Hypoxia Inducible Factor-1α binds and activates γ-secretase for Aβ production under hypoxia and cerebral hypoperfusion.缺氧诱导因子-1α在缺氧和脑低灌注下结合并激活 γ-分泌酶产生 Aβ。
Mol Psychiatry. 2022 Oct;27(10):4264-4273. doi: 10.1038/s41380-022-01676-7. Epub 2022 Jun 28.
3
Alzheimer's drugs: Does reducing amyloid work?
阿尔茨海默病药物:减少淀粉样蛋白是否有效?
Science. 2021 Oct 29;374(6567):544-545. doi: 10.1126/science.abl8366. Epub 2021 Oct 28.
4
Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease.阿尔茨海默病患者人脑和鼠脑中内含子保留的综合功能基因组分析。
Alzheimers Dement. 2021 Jun;17(6):984-1004. doi: 10.1002/alz.12254. Epub 2021 Jan 21.
5
The role of hypoxia on Alzheimer's disease-related APP and Tau mRNA formation.缺氧对阿尔茨海默病相关 APP 和 Tau mRNA 形成的作用。
Gene. 2021 Jan 15;766:145146. doi: 10.1016/j.gene.2020.145146. Epub 2020 Sep 14.
6
Increased intron retention is a post-transcriptional signature associated with progressive aging and Alzheimer's disease.内含子保留增加是一种与衰老进程和阿尔茨海默病相关的转录后特征。
Aging Cell. 2019 Jun;18(3):e12928. doi: 10.1111/acel.12928. Epub 2019 Mar 13.
7
Neurovascular pathways to neurodegeneration in Alzheimer's disease and other disorders.阿尔茨海默病和其他疾病的神经血管途径导致神经退行性变。
Nat Rev Neurosci. 2011 Nov 3;12(12):723-38. doi: 10.1038/nrn3114.
8
Plasma gelsolin is decreased and correlates with rate of decline in Alzheimer's disease.血浆凝溶胶蛋白降低,并与阿尔茨海默病的衰退速度相关。
J Alzheimers Dis. 2010;21(2):585-96. doi: 10.3233/JAD-2010-100279.
9
Molecular mechanism of Thioflavin-T binding to amyloid fibrils.硫黄素-T与淀粉样纤维结合的分子机制。
Biochim Biophys Acta. 2010 Jul;1804(7):1405-12. doi: 10.1016/j.bbapap.2010.04.001. Epub 2010 Apr 22.
10
Comparative protein structure modeling. Introduction and practical examples with modeller.比较蛋白质结构建模。使用Modeller的介绍与实际示例。
Methods Mol Biol. 2000;143:97-129. doi: 10.1385/1-59259-368-2:97.