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RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.
Tian S, Zhong X, Wang H, Wei J, Guo W, Wang R, Paul Estillore J, Napolitano C, Duff HH, Ilhan E, Knight LM, Lloyd MS, Roberts JD, Priori SG, Chen SRW. Tian S, et al. Among authors: paul estillore j. Biochem J. 2023 Sep 13;480(17):1379-1395. doi: 10.1042/BCJ20230254. Biochem J. 2023. PMID: 37492947
RyR2 Serine-2030 PKA Site Governs Ca2+ Release Termination and Ca2+ Alternans.
Wei J, Guo W, Wang R, Paul Estillore J, Belke D, Chen YX, Vallmitjana A, Benitez R, Hove-Madsen L, Chen SRW. Wei J, et al. Among authors: paul estillore j. Circ Res. 2023 Jan 20;132(2):e59-e77. doi: 10.1161/CIRCRESAHA.122.321177. Epub 2022 Dec 30. Circ Res. 2023. PMID: 36583384
Ca2+-CaM Dependent Inactivation of RyR2 Underlies Ca2+ Alternans in Intact Heart.
Wei J, Yao J, Belke D, Guo W, Zhong X, Sun B, Wang R, Paul Estillore J, Vallmitjana A, Benitez R, Hove-Madsen L, Alvarez-Lacalle E, Echebarria B, Chen SRW. Wei J, et al. Among authors: paul estillore j. Circ Res. 2021 Feb 19;128(4):e63-e83. doi: 10.1161/CIRCRESAHA.120.318429. Epub 2020 Dec 30. Circ Res. 2021. PMID: 33375811 Free article.