• 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

了解心肌病的分子基础。

Understanding the molecular basis of cardiomyopathy.

机构信息

Institute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), Milan Unit, Milan, Italy.

IRCCS Humanitas Research Hospital, Rozzano (Milan), Italy.

出版信息

Am J Physiol Heart Circ Physiol. 2022 Feb 1;322(2):H181-H233. doi: 10.1152/ajpheart.00562.2021. Epub 2021 Nov 19.

DOI:10.1152/ajpheart.00562.2021
PMID:34797172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8759964/
Abstract

Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can be caused by mutations in a wide range of proteins located in different cellular compartments. The present review is based on Dr. Ju Chen's 2021 Robert M. Berne Distinguished Lectureship of the American Physiological Society Cardiovascular Section, in which he provided an overview of the current knowledge on the cardiomyopathy-associated proteins that have been studied in his laboratory. The review provides a general summary of the proteins in different compartments of cardiomyocytes associated with cardiomyopathies, with specific focus on the proteins that have been studied in Dr. Chen's laboratory.

摘要

遗传性心肌病是全球范围内导致死亡和发病的主要原因,可由位于不同细胞区室的多种蛋白的突变引起。这篇综述基于陈居恒博士 2021 年美国生理学会心血管分部罗伯特·M·伯尔尼杰出讲师的演讲,他在演讲中概述了其实验室研究的与心肌病相关的心肌病相关蛋白的现有知识。该综述概括了与心肌病相关的不同心肌细胞区室的蛋白,重点介绍了陈博士实验室研究的蛋白。

相似文献

1
Understanding the molecular basis of cardiomyopathy.了解心肌病的分子基础。
Am J Physiol Heart Circ Physiol. 2022 Feb 1;322(2):H181-H233. doi: 10.1152/ajpheart.00562.2021. Epub 2021 Nov 19.
2
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.人诱导多能干细胞衍生心肌细胞作为遗传性心肌病模型。
Int J Mol Sci. 2019 Sep 6;20(18):4381. doi: 10.3390/ijms20184381.
3
Molecular Pathways and Animal Models of Cardiomyopathies.心肌疾病的分子途径和动物模型。
Adv Exp Med Biol. 2024;1441:991-1019. doi: 10.1007/978-3-031-44087-8_64.
4
Untangling the Biology of Genetic Cardiomyopathies with Pluripotent Stem Cell Disease Models.利用多能干细胞疾病模型解析遗传性心肌病的生物学机制
Curr Cardiol Rep. 2017 Apr;19(4):30. doi: 10.1007/s11886-017-0842-1.
5
P209L mutation in Bag3 does not cause cardiomyopathy in mice.Bag3 中的 P209L 突变不会导致小鼠发生心肌病。
Am J Physiol Heart Circ Physiol. 2019 Feb 1;316(2):H392-H399. doi: 10.1152/ajpheart.00714.2018. Epub 2018 Nov 30.
6
Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.钙离子释放异常终止是与心肌病相关的 RyR2 突变的常见缺陷。
Circ Res. 2012 Mar 30;110(7):968-77. doi: 10.1161/CIRCRESAHA.111.256560. Epub 2012 Feb 28.
7
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.ALPK3 中的双等位基因截断突变导致严重的儿科心肌病。
J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093.
8
Generation of an RBM20-mutation-associated left-ventricular non-compaction cardiomyopathy iPSC line (UMGi255-A) into a DCM genetic background to investigate monogenetic cardiomyopathies.生成一个与 RBM20 突变相关的左心室致密化不全性心肌病 iPSC 系(UMGi255-A),并将其转入 DCM 遗传背景中,以研究单基因心肌病。
Stem Cell Res. 2024 Feb;74:103290. doi: 10.1016/j.scr.2023.103290. Epub 2023 Dec 16.
9
Human-induced pluripotent stem cells for modelling metabolic perturbations and impaired bioenergetics underlying cardiomyopathies.用于模拟代谢紊乱和心肌病中生物能量障碍的人诱导多能干细胞。
Cardiovasc Res. 2021 Feb 22;117(3):694-711. doi: 10.1093/cvr/cvaa125.
10
The role of mutations in the SCN5A gene in cardiomyopathies.SCN5A基因中的突变在心肌病中的作用。
Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1799-805. doi: 10.1016/j.bbamcr.2016.02.014. Epub 2016 Feb 23.

引用本文的文献

1
Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency.两种肥厚型心肌病相关的心肌肌球蛋白结合蛋白C(cMyBP-C)突变体的不同分子特性揭示了单倍体不足之外的独特致病机制。
Biomedicines. 2025 Apr 22;13(5):1010. doi: 10.3390/biomedicines13051010.
2
Cardiac Fibroblasts: Helping or Hurting.心脏成纤维细胞:助力还是伤害?
Genes (Basel). 2025 Mar 27;16(4):381. doi: 10.3390/genes16040381.
3
Cardiac Magnetic Resonance Guidance for the Pathogenetic Definition of Cardiomyopathies.心肌病发病机制定义的心脏磁共振引导
Curr Cardiol Rep. 2025 Apr 16;27(1):85. doi: 10.1007/s11886-025-02233-8.
4
A New Perspective on the Role of Alterations in Mitochondrial Proteins Involved in ATP Synthesis and Mobilization in Cardiomyopathies.关于参与心肌病中ATP合成与转运的线粒体蛋白改变作用的新视角
Int J Mol Sci. 2025 Mar 19;26(6):2768. doi: 10.3390/ijms26062768.
5
α Protein Kinase 3 Is Essential for Neonatal and Adult Cardiac Function.α蛋白激酶3对新生儿和成年心脏功能至关重要。
J Am Heart Assoc. 2025 Apr;14(7):e039464. doi: 10.1161/JAHA.124.039464. Epub 2025 Mar 26.
6
Loss of GATAD1 in cardiomyocyte does not cause cardiomyopathy in mice.心肌细胞中GATAD1的缺失不会导致小鼠患心肌病。
J Mol Histol. 2024 Dec 6;56(1):33. doi: 10.1007/s10735-024-10297-z.
7
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.显性遗传性肌肉疾病:理解其复杂性并探索治疗方法。
Dis Model Mech. 2024 Oct 1;17(10). doi: 10.1242/dmm.050720. Epub 2024 Nov 6.
8
MiR-6721-5p as a natural regulator of Meta-VCL is upregulated in the serum of patients with coronary artery disease.作为Meta-VCL天然调节因子的MiR-6721-5p在冠心病患者血清中上调。
Noncoding RNA Res. 2024 Aug 27;10:25-34. doi: 10.1016/j.ncrna.2024.08.006. eCollection 2025 Feb.
9
Tissue Usage Preference and Intrinsically Disordered Region Remodeling of Alternative Splicing Derived Proteoforms in the Heart.组织利用偏好和心脏中可变剪接衍生蛋白的固有无序区域重塑。
J Proteome Res. 2024 Aug 2;23(8):3161-3173. doi: 10.1021/acs.jproteome.3c00789. Epub 2024 Mar 8.
10
Interaction of Filamin C With Actin Is Essential for Cardiac Development and Function.细丝蛋白 C 与肌动蛋白的相互作用对心脏发育和功能至关重要。
Circ Res. 2023 Aug 18;133(5):400-411. doi: 10.1161/CIRCRESAHA.123.322750. Epub 2023 Jul 26.

本文引用的文献

1
PRDM16 Is a Compact Myocardium-Enriched Transcription Factor Required to Maintain Compact Myocardial Cardiomyocyte Identity in Left Ventricle.PRDM16 是一种紧凑的心肌细胞丰富的转录因子,对于维持左心室紧凑型心肌细胞特征至关重要。
Circulation. 2022 Feb 22;145(8):586-602. doi: 10.1161/CIRCULATIONAHA.121.056666. Epub 2021 Dec 17.
2
Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload.肌联蛋白缺失小鼠出现心脏扩张,并对机械性压力超负荷产生适应性不良反应。
Elife. 2021 Sep 24;10:e58313. doi: 10.7554/eLife.58313.
3
Loss of eEF1A2 (Eukaryotic Elongation Factor 1 A2) in Murine Myocardium Results in Dilated Cardiomyopathy.小鼠心肌中真核生物延伸因子1A2(eEF1A2)缺失导致扩张型心肌病。
Circ Heart Fail. 2021 Oct;14(10):e008665. doi: 10.1161/CIRCHEARTFAILURE.121.008665. Epub 2021 Sep 24.
4
Filamin C in cardiomyopathy: from physiological roles to DNA variants.心肌病中的细丝蛋白C:从生理作用到DNA变异
Heart Fail Rev. 2022 Jul;27(4):1373-1385. doi: 10.1007/s10741-021-10172-z. Epub 2021 Sep 17.
5
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.小肥大型心肌病基因,对心肌病遗传学的主要认识。
Nat Rev Cardiol. 2022 Mar;19(3):151-167. doi: 10.1038/s41569-021-00608-2. Epub 2021 Sep 15.
6
Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure.心肌病的遗传学:对心力衰竭的临床及机制影响
Korean Circ J. 2021 Oct;51(10):797-836. doi: 10.4070/kcj.2021.0154. Epub 2021 Jul 22.
7
Dilated Cardiomyopathy: New Variant in the Filamin-C Gene.扩张型心肌病:细丝蛋白C基因的新变异体
Arq Bras Cardiol. 2021 Jul;117(1 suppl 1):16-18. doi: 10.36660/abc.20200199.
8
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.α-蛋白激酶 3(ALPK3)截断变异是常染色体显性肥厚型心肌病的一个病因。
Eur Heart J. 2021 Aug 21;42(32):3063-3073. doi: 10.1093/eurheartj/ehab424.
9
Arrhythmogenic left ventricular cardiomyopathy.致心律失常性左室心肌病
Heart. 2022 May;108(9):733-743. doi: 10.1136/heartjnl-2020-316944. Epub 2021 Jul 13.
10
Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.扩张型心肌病:对心力衰竭罕见但常见病因的新见解。
Heart Fail Rev. 2022 Mar;27(2):431-454. doi: 10.1007/s10741-021-10125-6. Epub 2021 Jul 10.