| 1 | ARVD2, RYR2
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| CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca2+ release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy.
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| Okuda S, Sufu-Shimizu Y, Kato T, Fukuda M, Nishimura S, Oda T, Kobayashi S, Yamamoto T, Morimoto S, Yano M.
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| Biochem Biophys Res Commun 496(4):1250-1256. doi: 10.1016/j.bbrc.2018.01.181. Epub 2018 Jan 31.
2018
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| 2 | ARVD2, RYR2
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| Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias.
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| Xiao Z, Guo W, Sun B, Hunt DJ, Wei J, Liu Y, Wang Y, Wang R, Jones PP, Back TG, Chen SR.
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| J Biol Chem 291(47):24528-24537. Epub 2016 Oct 12.
2016
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| 3 | ARVD2, FKBP1B, RYR2
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| FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death.
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| Wehrens XH, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ, Sun J, Guatimosim S, Song LS, Rosemblit N, D'Armiento JM, Napolitano C, Memmi M, Priori SG, Lederer WJ, Marks AR.
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| Cell 113(7):829-40. 2003
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| 4 | VTSIP2, ARVD2, FKBP1B, RYR2
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| The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations.
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| Tiso N, Salamon M, Bagattin A, Danieli GA, Argenton F, Bortolussi M.
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| Biochem Biophys Res Commun 299(4):594-8. 2002
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| 5 | ARVD2, RYR2
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| Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
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| Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A.
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| Hum Mol Genet 10(3):189-94. 2001
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| 6 | ARVD1, ARVD2
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| A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.
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| Rampazzo A, et al.
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| Hum Mol Genet 4 : 2151-2154. 1995
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