Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy

Schaenzer A.; Schuhmann E.; Zengeler D.; Schuld J.; Gulatz L.; Maroli G.; Graef S.; Ahting U.; Hahn A.; Nemeth A.; Fuerst D.; Rupp S.; van der Ven P.

首页> 外文期刊>Neuromuscular disorders: NMD >Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy

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Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy

机译：Z盘状相关蛋白丝蛋白C（p.ala2430Val）的突变导致肌原纤维肥厚性心肌病

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来源
《Neuromuscular disorders: NMD 》 |2019年第1期| 共1页
作者
Schaenzer A.; Schuhmann E.; Zengeler D.; Schuld J.; Gulatz L.; Maroli G.; Graef S.; Ahting U.; Hahn A.; Nemeth A.; Fuerst D.; Rupp S.; van der Ven P.;
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作者单位

Inst Neuropathol Giessen Germany;

Inst Neuropathol Giessen Germany;

CeGat GmbH Tubingen Germany;

Inst Cell Biol Bonn Germany;

Inst Neuropathol Giessen Germany;

Dept Cardiac Dev Bad Nauheim Germany;

Inst Neuropathol Giessen Germany;

Inst Clin Chem Munich Germany;

Dept Child Neurol Giessen Germany;

Inst Neuropathol Giessen Germany;

Inst Cell Biol Bonn Germany;

Pediat Heart Ctr Giessen Germany;

Inst Cell Biol Bonn Germany;

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正文语种 eng
中图分类神经病学 ;
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专利

1. Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy [J] . Schaenzer A., Schuhmann E., Zengeler D., Neuromuscular disorders: NMD . 2019 ,第Suppla1期

机译：Z盘状相关蛋白丝蛋白C（p.ala2430Val）的突变导致肌原纤维肥厚性心肌病
2. Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes [J] . Lili Wang, Kyungsoo Kim, Shan Parikh, Journal of Molecular and Cellular Cardiology . 2018 ,第期

机译：肌钙蛋白T中的肥厚性心肌病关联突变导致Myofibrillar混乱和亲心律动作潜在变化人IPSC心肌细胞
3. A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy [J] . Gemelli Chiara, Prada Valeria, Fiorillo Chiara, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2019 ,第期

机译：丝蛋白C蛋白N-末端作用结合结构域的一种新型突变，导致远端肌纤维半病变
4. Sarcomere Protein Expression Studies Suggest Mutation-Specific Disease Mechanisms in Human Hypertrophic Cardiomyopathy (HCM) [C] . Ravi Amunugama, Richard Jones, Michael Ford, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：Sarcomere蛋白表达研究表明人肥大心肌病变（HCM）中的突变特异性疾病机制
5. Physiologic Studies of Familial Hypertrophic Cardiomyopathy-Related Mutations in Cardiac Troponin T. [D] . Jimenez, Jesus. 2013

机译：心肌肌钙蛋白T中家族性肥厚性心肌病相关突变的生理研究。
6. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations [O] . Rudolf A. Kley, Peter F.M. van der Ven, Montse Olivé, 2013

机译：FLNC /纤维蛋白C突变导致肌原纤维肌病蛋白降解受损
7. A Model of Hypertrophic Cardiomyopathy Induced by a Protein Tyrosine Phosphatase SHP2 Mutation Demonstrates Increased Myofibrillar Function [O] . McDonald Kerry S., Hanft Laurin M., Krenz Maike 2012

机译：蛋白质酪氨酸磷酸酶SHP2突变诱导的肥厚型心肌病模型表明增加了肌原纤维的功能。

Mutation in Z-disk associated protein filamin C (p.Ala2430Val) causes myofibrillar hypertrophic cardiomyopathy

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