• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

NAA15 杂合不足导致先天性心脏病的机制。

Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.

机构信息

Genetics (T.W., W.T., S.M., G.V., M.Y.J., J.A.L.W., A.H., J.G., Y.K., A.P., J.H., C.C.B., S.R.D., C.S., J.G.S.), Harvard Medical School.

Division of Newborn Medicine, Boston Children's Hospital (S.M.).

出版信息

Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9.

DOI:10.1161/CIRCRESAHA.120.316966
PMID:33557580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8048381/
Abstract

[Figure: see text].

摘要

[图:见正文]。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/ad732de0f3df/res-128-1156-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a0a1a2bca1b2/res-128-1156-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a1cb25b63920/res-128-1156-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/8899d59c8839/res-128-1156-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a39c2ea220b3/res-128-1156-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/ad732de0f3df/res-128-1156-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a0a1a2bca1b2/res-128-1156-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a1cb25b63920/res-128-1156-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/8899d59c8839/res-128-1156-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/a39c2ea220b3/res-128-1156-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c82b/8048381/ad732de0f3df/res-128-1156-g007.jpg

相似文献

1
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.NAA15 杂合不足导致先天性心脏病的机制。
Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9.
2
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.NAA15 截断变异与智力障碍、自闭症谱系障碍和先天性异常的可变水平有关。
Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12.
3
Investigating the functionality of a ribosome-binding mutant of NAA15 using Saccharomyces cerevisiae.利用酿酒酵母研究NAA15核糖体结合突变体的功能。
BMC Res Notes. 2018 Jun 22;11(1):404. doi: 10.1186/s13104-018-3513-4.
4
Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy.N端乙酰化失调会导致心律失常和心肌病。
Nat Commun. 2025 Apr 16;16(1):3604. doi: 10.1038/s41467-025-58539-2.
5
N-α-acetyltransferase 10 (NAA10) in development: the role of NAA10.N-α-乙酰转移酶 10(NAA10)在发育中的作用:NAA10 的作用。
Exp Mol Med. 2018 Jul 27;50(7):1-11. doi: 10.1038/s12276-018-0105-2.
6
Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.NAA15 变异导致小儿肥厚型心肌病。
Am J Med Genet A. 2021 Jan;185(1):228-233. doi: 10.1002/ajmg.a.61928. Epub 2020 Oct 26.
7
p.(D10G) and p.(L11R) Variants Hamper Formation of the NatA N-Terminal Acetyltransferase Complex.p.(D10G)和 p.(L11R) 变异会阻碍 NatA N 端乙酰转移酶复合物的形成。
Int J Mol Sci. 2020 Nov 26;21(23):8973. doi: 10.3390/ijms21238973.
8
A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.在两名患有智力障碍和小头畸形的男孩中鉴定出一种具有受损乙酰转移酶活性的新型NAA10 p.(R83H)变体。
BMC Med Genet. 2019 Jun 7;20(1):101. doi: 10.1186/s12881-019-0803-1.
9
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.NAA10 和 NAA15 变异个体的国际队列的表型和生化分析。
Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111.
10
Reply to Letter: Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.对信件的回复:神经发育基因相关肌张力障碍:一例携带NAA15变异的儿科病例
Mov Disord. 2022 Nov;37(11):2322. doi: 10.1002/mds.29242.

引用本文的文献

1
NAA10 (N-Alpha-Acetyltransferase 10): A Multifunctional Regulator in Development, Disease, and Cancer.NAA10(N-α-乙酰基转移酶10):发育、疾病和癌症中的多功能调节因子。
Cells. 2025 Jun 7;14(12):863. doi: 10.3390/cells14120863.
2
The Cardiovascular Manifestations and Management Recommendations for Ogden Syndrome.奥格登综合征的心血管表现及管理建议
Pediatr Cardiol. 2025 Apr 28. doi: 10.1007/s00246-025-03877-7.
3
Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy.N端乙酰化失调会导致心律失常和心肌病。

本文引用的文献

1
FKBP4 connects mTORC2 and PI3K to activate the PDK1/Akt-dependent cell proliferation signaling in breast cancer.FKBP4 将 mTORC2 和 PI3K 连接起来,激活乳腺癌中 PDK1/Akt 依赖性细胞增殖信号通路。
Theranostics. 2019 Sep 21;9(23):7003-7015. doi: 10.7150/thno.35561. eCollection 2019.
2
Structure and Mechanism of Acetylation by the N-Terminal Dual Enzyme NatA/Naa50 Complex.N 端双酶 NatA/Naa50 复合物介导的乙酰化作用的结构与机制。
Structure. 2019 Jul 2;27(7):1057-1070.e4. doi: 10.1016/j.str.2019.04.014. Epub 2019 May 30.
3
Co-translational, Post-translational, and Non-catalytic Roles of N-Terminal Acetyltransferases.
Nat Commun. 2025 Apr 16;16(1):3604. doi: 10.1038/s41467-025-58539-2.
4
Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromes.与NAA10和NAA15相关的神经发育综合征的神经解剖学特征。
J Neuroradiol. 2025 Jun;52(4):101339. doi: 10.1016/j.neurad.2025.101339. Epub 2025 Apr 7.
5
Modeling Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.诱导多能干细胞中的突变建模为心血管疾病发病机制提供了见解。
J Am Heart Assoc. 2025 Mar 4;14(5):e036860. doi: 10.1161/JAHA.124.036860. Epub 2025 Mar 3.
6
Natural History of NAA15 -Related Neurodevelopmental Disorder Through Adolescence.NAA15相关神经发育障碍至青春期的自然病史。
Am J Med Genet A. 2025 Jun;197(6):e64009. doi: 10.1002/ajmg.a.64009. Epub 2025 Feb 24.
7
Acetyltransferase in cardiovascular disease and aging.心血管疾病与衰老中的乙酰转移酶
J Cardiovasc Aging. 2024;4(26). doi: 10.20517/jca.2024.21. Epub 2024 Dec 31.
8
Illuminating the impact of N-terminal acetylation: from protein to physiology.揭示N端乙酰化的影响:从蛋白质到生理学
Nat Commun. 2025 Jan 15;16(1):703. doi: 10.1038/s41467-025-55960-5.
9
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editing.通过X染色体筛选和基因组编辑建立的奥格登综合征患者来源的诱导多能干细胞系和同基因对库。
bioRxiv. 2024 Sep 28:2024.09.28.615067. doi: 10.1101/2024.09.28.615067.
10
Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy.N端乙酰化失调会导致心律失常和心肌病。
Res Sq. 2024 Jul 19:rs.3.rs-3398860. doi: 10.21203/rs.3.rs-3398860/v1.
N-末端乙酰转移酶的共翻译、翻译后及非催化作用
Mol Cell. 2019 Mar 21;73(6):1097-1114. doi: 10.1016/j.molcel.2019.02.007. Epub 2019 Mar 13.
4
The small and large ribosomal subunits depend on each other for stability and accumulation.小亚基和大亚基依赖彼此来维持稳定和积累。
Life Sci Alliance. 2019 Mar 5;2(2). doi: 10.26508/lsa.201800150. Print 2019 Apr.
5
Single-Cell Transcriptome Analysis Maps the Developmental Track of the Human Heart.单细胞转录组分析描绘了人类心脏的发育轨迹。
Cell Rep. 2019 Feb 12;26(7):1934-1950.e5. doi: 10.1016/j.celrep.2019.01.079.
6
SarcTrack.萨氏追踪技术。
Circ Res. 2019 Apr 12;124(8):1172-1183. doi: 10.1161/CIRCRESAHA.118.314505.
7
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.自闭症/发育迟缓风险基因的遗传和新发突变提示了一种多因素模型。
Mol Autism. 2018 Dec 13;9:64. doi: 10.1186/s13229-018-0247-z. eCollection 2018.
8
Ribosome-NatA architecture reveals that rRNA expansion segments coordinate N-terminal acetylation.核糖体-NatA 结构揭示了 rRNA 扩展片段协调 N 端乙酰化。
Nat Struct Mol Biol. 2019 Jan;26(1):35-39. doi: 10.1038/s41594-018-0165-y. Epub 2018 Dec 17.
9
Small and Large Ribosomal Subunit Deficiencies Lead to Distinct Gene Expression Signatures that Reflect Cellular Growth Rate.小核糖体亚基和大核糖体亚基缺陷导致不同的基因表达特征,这些特征反映了细胞的生长速度。
Mol Cell. 2019 Jan 3;73(1):36-47.e10. doi: 10.1016/j.molcel.2018.10.032. Epub 2018 Nov 29.
10
UniProt: a worldwide hub of protein knowledge.UniProt:蛋白质知识的全球枢纽。
Nucleic Acids Res. 2019 Jan 8;47(D1):D506-D515. doi: 10.1093/nar/gky1049.