TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
TMEM43-S358L mutation enhances NF-κB-TGFβ signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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TMEM43-S358L 突变增强致心律失常性右心室发育不良/心肌病中 NF-κB-TGFβ 信号级联
DOI：
10.1007/s13238-018-0563-2
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发表时间：
2019-03
期刊：
影响因子：
21.1
通讯作者：
Lin X
中科院分区：
文献类型：
--
作者：
Zheng G;Jiang C;Li Y;Yang D;Ma Y;Zhang B;Li X;Zhang P;Hu X;Zhao X;Du J;Lin X
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic cardiac muscle disease that accounts for approximately 30% sudden cardiac death in young adults. The Ser358Leu mutation of transmembrane protein 43 (TMEM43) was commonly identified in the patients of highly lethal and fully penetrant ARVD subtype, ARVD5. Here, we generated TMEM43 S358L mouse to explore the underlying mechanism. This mouse strain showed the classic pathologies of ARVD patients, including structural abnormalities and cardiac fibrofatty. TMEM43 S358L mutation led to hyper-activated nuclear factor κB (NF-κB) activation in heart tissues and primary cardiomyocyte cells. Importantly, this hyper activation of NF-κB directly drove the expression of pro-fibrotic gene, transforming growth factor beta (TGFβ1), and enhanced downstream signal, indicating that TMEM43 S358L mutation up-regulates NF-κB-TGFβ signal cascade during ARVD cardiac fibrosis. Our study partially reveals the regulatory mechanism of ARVD development.
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影响因子：
5.3
作者：
Li, Jifen;Swope, David;Radice, Glenn L.
通讯作者：
Radice, Glenn L.
DOI：
10.1073/pnas.0601947103
发表时间：
2007-01-02
影响因子：
11.1
作者：
McAllister-Lucas, Linda M.;Ruland, Juergen;Lucas, Peter C.
通讯作者：
Lucas, Peter C.
影响因子：
39.3
作者：
Haywood, Annika F. M.;Merner, Nancy D.;Young, Terry-Lynn
通讯作者：
Young, Terry-Lynn
影响因子：
20.1
作者：
Lombardi R;da Graca Cabreira-Hansen M;Bell A;Fromm RR;Willerson JT;Marian AJ
通讯作者：
Marian AJ
DOI：
10.1007/s00259-010-1525-y
发表时间：
2010-11
影响因子：
9.1
作者：
Campian, Maria E.;Verberne, Hein J.;Hardziyenka, Maxim;de Groot, Elisabeth A. A.;van Moerkerken, Astrid F.;van Eck-Smit, Berthe L. F.;Tan, Hanno L.
通讯作者：
Tan, Hanno L.