• 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

相似文献

1
Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair.心肌肌钙蛋白T与家族性肥厚型心肌病：一段能量相关的故事。
J Clin Invest. 2003 Sep;112(5):652-4. doi: 10.1172/JCI19632.
2
Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.心肌肌钙蛋白T基因中Arg278Cys错义突变所致肥厚型心肌病的临床特征
Am J Cardiol. 2004 Jul 15;94(2):246-9. doi: 10.1016/j.amjcard.2004.03.077.
3
Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T.携带心肌肌钙蛋白T R92Q突变的小鼠心脏能量代谢降低。
J Clin Invest. 2003 Sep;112(5):768-75. doi: 10.1172/JCI15967.
4
Independent FHC-related cardiac troponin T mutations exhibit specific alterations in myocellular contractility and calcium kinetics.与家族性肥厚型心肌病（FHC）相关的独立心肌肌钙蛋白T突变在心肌细胞收缩性和钙动力学方面表现出特定改变。
J Mol Cell Cardiol. 2007 Jun;42(6):1098-110. doi: 10.1016/j.yjmcc.2007.03.906. Epub 2007 Mar 31.
5
Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families.肥厚型心肌病。在 127 个西班牙家族中对肌钙蛋白 T 基因的研究。
Rev Esp Cardiol. 2009 Dec;62(12):1473-7.
6
[A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy].[中国肥厚型心肌病患者肌钙蛋白T基因中的一种新型错义突变K124N]
Zhonghua Yi Xue Za Zhi. 2004 Aug 17;84(16):1340-3.
7
Hypertrophy, fibrosis, and sudden cardiac death in response to pathological stimuli in mice with mutations in cardiac troponin T.心肌肌钙蛋白T突变小鼠在病理刺激下的肥大、纤维化及心源性猝死
Circulation. 2004 Oct 12;110(15):2102-9. doi: 10.1161/01.CIR.0000144460.84795.E3. Epub 2004 Oct 4.
8
Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis.由心肌肌钙蛋白T基因中的Phe110Ile错义突变引起的家族性肥厚型心肌病患者具有不同的心脏形态且预后良好。
Circulation. 1998 Aug 4;98(5):391-7. doi: 10.1161/01.cir.98.5.391.
9
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.心肌肌钙蛋白T基因突变所致肥厚型心肌病的长期预后
Circ Cardiovasc Genet. 2012 Feb 1;5(1):10-7. doi: 10.1161/CIRCGENETICS.111.959973. Epub 2011 Dec 5.
10
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.由肌节基因突变引起的肥厚型心肌病的特征是能量代谢受损，而与肥厚程度无关。
J Am Coll Cardiol. 2003 May 21;41(10):1776-82. doi: 10.1016/s0735-1097(02)03009-7.

引用本文的文献

1
Structure and Dynamics of the Flexible Cardiac Troponin T Linker Domain in a Fully Reconstituted Thin Filament.在完全重组的细肌丝中，柔性肌钙蛋白 T 连接域的结构和动力学。
Biochemistry. 2022 Jul 5;61(13):1229-1242. doi: 10.1021/acs.biochem.2c00091. Epub 2022 Jun 13.
2
Surgery for Hypertrophic Obstructive Cardiomyopathy: Comprehensive LVOT Management beyond Septal Myectomy.肥厚型梗阻性心肌病的外科治疗：除室间隔心肌切除之外的左心室流出道综合管理
J Clin Med. 2021 Sep 26;10(19):4397. doi: 10.3390/jcm10194397.
3
Moving beyond simple answers to complex disorders in sarcomeric cardiomyopathies: the role of integrated systems.超越肌原性心肌病中简单答案的复杂障碍：集成系统的作用。
Pflugers Arch. 2019 May;471(5):661-671. doi: 10.1007/s00424-019-02269-0. Epub 2019 Mar 8.
4
Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes.肌钙蛋白 T 中的肥厚型心肌病相关突变导致人类 iPSC 心肌细胞中的肌原纤维排列紊乱和致心律失常动作电位改变。
J Mol Cell Cardiol. 2018 Jan;114:320-327. doi: 10.1016/j.yjmcc.2017.12.002. Epub 2017 Dec 5.
5
Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region.致肌钙蛋白 T 突变导致的肌病重叠区肌球蛋白重链区分子机制和结构特征。
Proc Natl Acad Sci U S A. 2017 Oct 17;114(42):11115-11120. doi: 10.1073/pnas.1710354114. Epub 2017 Oct 2.
6
Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.心肌肌钙蛋白和原肌球蛋白：揭示肥厚型心肌病表型的结构与细胞视角
Front Physiol. 2016 Sep 23;7:429. doi: 10.3389/fphys.2016.00429. eCollection 2016.
7
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.肌钙蛋白T1、肌钙蛋白T2和肌钙蛋白T3：同工型基因、调控及结构-功能关系
Gene. 2016 May 10;582(1):1-13. doi: 10.1016/j.gene.2016.01.006. Epub 2016 Jan 13.
8
Hypertrophic cardiomyopathy in daily practice: an introduction on diagnosis, prognosis and treatment.日常实践中的肥厚型心肌病：诊断、预后及治疗介绍
Neth Heart J. 2005 Dec;13(12):452-460.
9
Thin filament mutations: developing an integrative approach to a complex disorder.细肌丝突变：对一种复杂疾病采用综合方法进行研究。
Circ Res. 2011 Mar 18;108(6):765-82. doi: 10.1161/CIRCRESAHA.110.224170.
10
Two functionally identical modular enhancers in Drosophila troponin T gene establish the correct protein levels in different muscle types.果蝇肌钙蛋白T基因中的两个功能相同的模块化增强子在不同肌肉类型中建立了正确的蛋白质水平。
Mol Biol Cell. 2004 Apr;15(4):1931-45. doi: 10.1091/mbc.e03-10-0729. Epub 2004 Jan 12.

本文引用的文献

1
Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T.携带心肌肌钙蛋白T R92Q突变的小鼠心脏能量代谢降低。
J Clin Invest. 2003 Sep;112(5):768-75. doi: 10.1172/JCI15967.
2
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.肥厚型心肌病：疾病基因分布、突变谱及其对分子诊断策略的影响
Circulation. 2003 May 6;107(17):2227-32. doi: 10.1161/01.CIR.0000066323.15244.54. Epub 2003 Apr 21.
3
Structure and interactions of the carboxyl terminus of striated muscle alpha-tropomyosin: it is important to be flexible.横纹肌α-原肌球蛋白羧基末端的结构与相互作用：保持灵活性很重要。
Biophys J. 2002 Nov;83(5):2754-66. doi: 10.1016/S0006-3495(02)75285-5.
4
Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations.
J Biol Chem. 2003 Jan 3;278(1):506-13. doi: 10.1074/jbc.M209194200. Epub 2002 Oct 29.
5
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.一种导致扩张型心肌病的人类心肌肌钙蛋白T突变体所引发的细肌丝调节改变，与那些导致肥厚型心肌病的肌钙蛋白T突变体所引发的改变不同。
J Biol Chem. 2002 Oct 25;277(43):40710-6. doi: 10.1074/jbc.M203446200. Epub 2002 Aug 18.
6
Cardiac troponin T isoforms affect the Ca2+ sensitivity and inhibition of force development. Insights into the role of troponin T isoforms in the heart.心肌肌钙蛋白T亚型影响Ca2+敏感性并抑制力的产生。对肌钙蛋白T亚型在心脏中作用的见解。
J Biol Chem. 2002 Sep 20;277(38):35341-9. doi: 10.1074/jbc.M204118200. Epub 2002 Jul 1.
7
A modulatory role for the troponin T tail domain in thin filament regulation.肌钙蛋白T尾部结构域在细肌丝调节中的调节作用。
J Biol Chem. 2002 Aug 16;277(33):29774-80. doi: 10.1074/jbc.M201761200. Epub 2002 Jun 3.
8
The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity.肌钙蛋白尾部结构域促进细肌丝的一种构象状态，这种状态会抑制肌球蛋白活性。
J Biol Chem. 2002 Aug 2;277(31):27636-42. doi: 10.1074/jbc.M201768200. Epub 2002 May 14.
9
New concepts in hypertrophic cardiomyopathies, part II.肥厚型心肌病的新概念，第二部分。
Circulation. 2001 Oct 30;104(18):2249-52. doi: 10.1161/hc4301.097430.
10
New concepts in hypertrophic cardiomyopathies, part I.肥厚型心肌病的新概念，第一部分。
Circulation. 2001 Oct 23;104(17):2113-6. doi: 10.1161/hc4201.097429.

心肌肌钙蛋白T与家族性肥厚型心肌病：一段能量相关的故事。

Cardiac troponin T and familial hypertrophic cardiomyopathy: an energetic affair.

作者信息

Schwartz Ketty, Mercadier Jean-Jacques

机构信息

Institut National de la Santé et de la Recherche Médicale ( INSERM) U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

出版信息

J Clin Invest. 2003 Sep;112(5):652-4. doi: 10.1172/JCI19632.

DOI:10.1172/JCI19632
PMID:12952912
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC182216/
Abstract

It has long been noted that while patients with familial hypertrophic cardiomyopathy due to cardiac troponin T (cTnT) mutations often suffer sudden cardiac death, they do not develop significant ventricular hypertrophy, suggesting that a distinct cellular mechanism apart from alterations in myocardial contractility is responsible. A new study has revealed that a single missense mutation in cTnT causes a striking disruption to energy metabolism, leading to cardiomyopathy.

摘要

长期以来人们一直注意到，因心肌肌钙蛋白T（cTnT）突变导致家族性肥厚型心肌病的患者常遭遇心源性猝死，但他们并未出现明显的心室肥厚，这表明除心肌收缩性改变之外，还有一种独特的细胞机制在起作用。一项新研究表明，cTnT中的单个错义突变会对能量代谢造成显著破坏，进而导致心肌病。