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Reduced expression of cardiac ryanodine receptor protects against stress-induced ventricular tachyarrhythmia, but increases the susceptibility to cardiac alternans.
Zhong X, Vallmitjana A, Sun B, Xiao Z, Guo W, Wei J, Ni M, Chen Y, O'Brien ER, Gillis AM, Hoshijima M, Takeshima H, Hove-Madsen L, Benitez R, Belke D, Wayne Chen SR. Zhong X, et al. Among authors: sun b. Biochem J. 2018 Jan 5;475(1):169-183. doi: 10.1042/BCJ20170631. Biochem J. 2018. PMID: 29170159
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R. Synofzik M, et al. Among authors: sun b. Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20. Eur J Hum Genet. 2018. PMID: 29925855 Free PMC article.
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