Protein & Cell >

2022 , Vol. 13 >Issue 1: 65 - 71

DOI: https://doi.org/10.1007/s13238-021-00843-w

LETTER

Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy

  • Bin Li 1,2 ,
  • Yongkun Zhan 1 ,
  • Qianqian Liang 1,4 ,
  • Chen Xu 1,4 ,
  • Xinyan Zhou 1 ,
  • Huanhuan Cai 1 ,
  • Yufan Zheng 1 ,
  • Yifan Guo 1 ,
  • Lei Wang 6 ,
  • Wenqing Qiu 6 ,
  • Baiping Cui 1 ,
  • Chao Lu 1,4 ,
  • Ruizhe Qian 1,4 ,
  • Ping Zhou 1 ,
  • Haiyan Chen 5 ,
  • Yun Liu 6 ,
  • Sifeng Chen 1 ,
  • Xiaobo Li 1 ,
  • Ning Sun , 1,3,4
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  • 1. Department of Physiology and Pathophysiology, State Key Laboratory of Medical Neurobiology, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China
  • 2. Shanghai Institute of Precision Medicine, Ninth People’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
  • 3. Shanghai Key Lab of Birth Defect, Children’s Hospital of Fudan University, Shanghai 201102, China
  • 4. Shanghai Key Laboratory of Clinical Geriatric Medicine, Research Center on Aging and Medicine, Fudan University, Shanghai 200032, China
  • 5. Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai 200032, China
  • 6. Department of Biochemistry, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China

Accepted date: 08 Mar 2021

Published date: 15 Jan 2022

Copyright

2021 The Author(s)
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Cite this article

Bin Li , Yongkun Zhan , Qianqian Liang , Chen Xu , Xinyan Zhou , Huanhuan Cai , Yufan Zheng , Yifan Guo , Lei Wang , Wenqing Qiu , Baiping Cui , Chao Lu , Ruizhe Qian , Ping Zhou , Haiyan Chen , Yun Liu , Sifeng Chen , Xiaobo Li , Ning Sun . Isogenic human pluripotent stem cell disease models reveal ABRA deficiency underlies cTnT mutation-induced familial dilated cardiomyopathy[J]. Protein & Cell, 2022 , 13(1) : 65 -71 . DOI: 10.1007/s13238-021-00843-w

References

Publishing order | Descend order by publishing year | Descend order by cited within
1
Arai A, Spencer JA, Olson EN (2002) STARS, a striated muscle activator of Rho signaling and serum response factor-dependent transcription. J Biol Chem 277:24453–24459

DOI

2
Furuya Y, Denda M, Sakane K, Ogusu T, Takahashi S, Magari M, Kanayama N, Morishita R, Tokumitsu H (2016) Identification of striated muscle activator of Rho signaling (STARS) as a novel calmodulin target by a newly developed genome-wide screen. Cell Calcium 60:32–40

DOI

3
Hershberger RE, Hedges DJ, Morales A (2013) Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 10:531–547

DOI

4
Jefferies JL, Towbin JA (2010) Dilated cardiomyopathy. The Lancet 375:752–762

DOI

5
Juan F, Wei D, Xiongzhi Q, Ran D, Chunmei M, Lan H, Chuan Q, Lianfeng Z (2008) The changes of the cardiac structure and function in cTnTR141W transgenic mice. Int J Cardiol 128:83–90

DOI

6
Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B,Smoot L, Mullen MP, Woolf PK, Wigle ED (2000) Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 343:1688–1696

DOI

7
Kathiresan S, Srivastava D (2012) Genetics of human cardiovascular disease. Cell 148:1242–1257

DOI

8
Kehat I, Molkentin JD (2010) Molecular pathways underlying cardiac remodeling during pathophysiological stimulation. Circulation 122:2727–2735

DOI

9
Kuwahara K, Teg Pipes GC, McAnally J, Richardson JA, Hill JA, Bassel-Duby R, Olson EN (2007) Modulation of adverse cardiac remodeling by STARS, a mediator of MEF2 signaling and SRF activity. J Clin Investig 117:1324–1334

DOI

10
Lamon S, Wallace MA, Leger B, Russell AP (2009) Regulation of STARS and its downstream targets suggest a novel pathway involved in human skeletal muscle hypertrophy and atrophy. J Physiol 587:1795–1803

DOI

11
McNally EM, Mestroni L (2017) Dilated cardiomyopathy: genetic determinants and mechanisms. Circ Res 121:731–748

DOI

12
Morimoto S, Lu QW, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M,Sasaguri T, Ohtsuki I (2002) Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA 99:913–918

DOI

13
Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M (2003) Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107:2227–2232

DOI

14
Wallace MA, Lamon S, Russell AP (2012) The regulation and function of the striated muscle activator of rho signaling (STARS) protein. Front Physiol 3:469

DOI

15
Watkins H, McKenna WJ, Thierfelder L, Suk HJ, Anan R, O’Donoghue A, Spirito P, Matsumori A, Moravec CS, Seidman JG (1995) Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 332:1058–1064

DOI

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