Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

Yin Liheng; Zahradnikova Alexandra Jr.; Rizzetto Riccardo; Boncompagni Simona; de Meritens Camille Rabesahala; Zhang Yadan; Joanne Pierre; Marques-Sule Elena; Aguilar-Sanchez Yuriana; Fernandez-Tenorio Miguel; Villejoubert Olivier; Li Linwei; Wang Yue Yi; Mateo Philippe; Nicolas Valerie; Gerbaud Pascale; Lai F. Anthony; Perrier Romain; Alvarez Julio L.; Niggli Ernst; Valdivia Hector H.; Valdivia Carmen R.; Ramos-Franco Josefina; Zorio Esther; Zissimopoulos Spyros; Protasi Feliciano; Benitah Jean-Pierre; Gomez Ana M.

首页> 外文期刊>Circulation research: a journal of the American Heart Association >Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

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Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

机译：对CPVT突变中的少数纳米结构改变受损

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RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease, manifested by syncope or sudden death in children or young adults under stress conditions. Mutations in the Ca2+ release channel/RyR2 (type 2 ryanodine receptor) gene account for about 60% of the identified mutations. Recently, we found and described a mutation in RyR2 N-terminal domain, RyR2(R420Q).

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来源
《Circulation research: a journal of the American Heart Association》 |2021年第3期|共18页
作者
Yin Liheng; Zahradnikova Alexandra Jr.; Rizzetto Riccardo; Boncompagni Simona; de Meritens Camille Rabesahala; Zhang Yadan; Joanne Pierre; Marques-Sule Elena; Aguilar-Sanchez Yuriana; Fernandez-Tenorio Miguel; Villejoubert Olivier; Li Linwei; Wang Yue Yi; Mateo Philippe; Nicolas Valerie; Gerbaud Pascale; Lai F. Anthony; Perrier Romain; Alvarez Julio L.; Niggli Ernst; Valdivia Hector H.; Valdivia Carmen R.; Ramos-Franco Josefina; Zorio Esther; Zissimopoulos Spyros; Protasi Feliciano; Benitah Jean-Pierre; Gomez Ana M.;
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作者单位

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Slovak Acad Sci Biomed Res Ctr Dubravska Cesta 9 Bratislava 84505 Slovakia;

Axxam SpA Bresso Lombardy Italy;

Univ Gabriele dAnnunzio Dept Neurosci Imaging &

Clin Sci DNICS Med &

Ageing Sci DMSI Chieti;

Swansea Univ Inst Life Sci Med Sch Swansea SA2 8PP W Glam Wales;

Swansea Univ Inst Life Sci Med Sch Swansea SA2 8PP W Glam Wales;

Sorbonne Univ UMR 8256 F-75252 Paris France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Rush Univ Physiol &

Biophys Med Ctr Chicago IL 60612 USA;

Univ Bern Physiol Bern Switzerland;

Inst Mutualiste Montsouris 42 Blvd Jourdan F-75014 Paris France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

IPSIT F-92296 Chatenay Malabry France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Qatar Univ Coll Med QU Hlth Biomed &

Pharmaceut Res Unit Doha Qatar;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Univ Bern Physiol Bern Switzerland;

Univ Wisconsin Sch Med &

Publ Hlth Med &

Cardiovasc Res Ctr Madison WI USA;

Univ Wisconsin Sch Med &

Publ Hlth Med &

Cardiovasc Res Ctr Madison WI USA;

Rush Univ Physiol &

Biophys Med Ctr Chicago IL 60612 USA;

Hosp Univ &

Politecn La Fe Cardiol Dept Valencia Spain;

Swansea Univ Inst Life Sci Med Sch Swansea SA2 8PP W Glam Wales;

Univ Gabriele dAnnunzio Dept Neurosci Imaging &

Clin Sci DNICS Med &

Ageing Sci DMSI Chieti;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

Univ Paris Saclay Signaling &

Cardiovasc Pathophysiol UMR S 1180 INSERM Chatenay Malabry France;

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原文格式 PDF
正文语种 eng
中图分类心脏、血管（循环系）疾病;
关键词
action potential; calcium; junctophilin; mutation; ryanodine receptor; ventricular tachycardia;

机译：动作潜力;钙;junctophilin;突变;ryanodine受体;心室性心动过速;

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4. Alterations of brain local functional connectivity in amnestic mild cognitive impairment [J] . Dan Zheng, Wei Xia, Zhong Quan Yi, 转化神经变性病(英文) . 2018,第001期
5. Correlation between Electroencephalogram Alterations and Frontal Cognitive Impairment in Esophageal Cancer Patients Complicated with Depression [J] . Yin Cao, Xia Chen, Hui Xie, 中华医学杂志（英文版） . 2017,第015期
6. Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization [J] . BeaversD.L., WangW., AtherS., Journal of the American College of Cardiology . 2013,第21期

机译：junctophilin-2中的E169K突变会导致RyR2稳定性受损，导致房颤
7. Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response [J] . Hayley?J. Bennett, John?Bernard Davenport, Richard?F. Collins, The biochemical journal . 2013,第2期

机译：人junctophilin-2结合PtdIns（3,4,5）P3时发生结构重排，肥厚型心肌病中鉴定的S101R突变消除了这种反应
8. Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P-3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response [J] . Bennett Hayley J., Davenport John Bernard, Collins Richard F., The Biochemical Journal . 2013,第Pta2期

机译：人junctophilin-2在结合pTDINs（3,4,5）p-3时经历结构重排，肥厚性心肌病症中鉴定的S101R突变消除了这种反应
9. rSNP_Guide: Meta-Tools Predicting of Regulatory DNA Signals Damaged/Appeared Due to Single Nucleotide Mutation by Alterations in Pattern of DNA Binding to Nuclear Proteins [C] . Mikhail Ponomarenko, Tatyana Merkulova, Julia Ponomarenko, International NAISO(Natural amp; Artificial Intelligence Systems Organization) Congress on Information Science Innovations Mar 17-21, 2001 Dubai, U.A.E. . 2001

机译：rSNP_Guide：预测由于单核苷酸突变导致DNA结合核蛋白模式改变而破坏/显示的调控DNA信号的元工具
10. Effect of Mutations on the Binding between Human Heparin-Binding EGF-like Growth Factor (hHB-EGF) and Cross-Reactive Material 197 (CRM197) [D] . Okehie, Nneka Uche 2019

机译：突变对人肝素结合型EGF样生长因子（hHB-EGF）与交叉反应物质197（CRM197）结合的影响
11. CPVT-associated cardiac ryanodine receptor mutation G357S with reduced penetrance impairs Ca2+ release termination and diminishes protein expression [O] . Yingjie Liu, Jinhong Wei, Siobhan M. Wong King Yuen, 2011

机译：CPVT相关的心脏瑞丹碱受体突变G357S的外显率降低损害Ca2 +释放终止并减少蛋白质表达
12. Mutation E169K in Junctophilin-2 Causes Atrial Fibrillation Due to Impaired RyR2 Stabilization [O] . Beavers David L., Wang Wei, Ather Sameer, 2013

机译：Junctophilin-2中的E169K突变导致RyR2稳定性受损导致心房颤动。
13. Substrate Binding-Induced Alteration of Nucleotide Binding Site Properties ofChloroplast Coupling Factor [R] . Shapiro, A. B., McCarty, R. E. 1990

机译：底物结合诱导的氯化物偶联因子核苷酸结合位点特性的改变

Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation

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