Litcius/Paper detail

Cardiac ryanodine receptor calcium release deficiency syndrome

Bo Sun, Jinjing Yao, Mingke Ni, Jinhong Wei, Xiaowei Zhong, Wenting Guo, Lin Zhang, Ruiwu Wang, Darrell D. Belke, Yong-Xiang Chen, Krystien V.V. Lieve, Anders Krogh Broendberg, Thomas M. Roston, Ivan Blankoff, Janneke A.E. Kammeraad, Johannes C. von Alvensleben, Julieta Lazarte, Alexander Vallmitjana, Loryn J. Bohne, Robert A. Rose, Raúl Benítez, Leif Hove‐Madsen, Carlo Napolitano, Robert A. Hegele, Michael Fill, Shubhayan Sanatani, Arthur A.M. Wilde, Jason D. Roberts, Silvia G. Priori, Henrik Kjærulf Jensen, S.R. Wayne Chen

2021Science Translational Medicine119 citationsDOIOpen Access PDF

Abstract

release deficiency syndrome (CRDS). Our study provides insights into the mechanism of CRDS, reports a specific CRDS diagnostic test, and identifies potentially efficacious anti-CRDS therapies.

Topics & Concepts

Ryanodine receptorCalciumReceptorMedicineEndocrinologyInternal medicineChemistryCardiac electrophysiology and arrhythmiasIon channel regulation and functionProtein Kinase Regulation and GTPase Signaling