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In the present paper we show that distinct human RyR2 (ryanodine receptor type 2) inherited mutations expressed in mammalian cells exhibit either unaltered or increased FKBP12.6 (12.6 kDa FK506-binding protein) binding compared with the wild-type. Oxidizing conditions result in decreased FKBP12.6 binding, but to the same extent as for the wild-type. Our findings suggest that FKBP12.6 regulation of RyR2 is unlikely to be the primary defect in inherited arrhythmogenic cardiac disease.

Citation

Spyros Zissimopoulos, N Lowri Thomas, Wan W Jamaluddin, F Anthony Lai. FKBP12.6 binding of ryanodine receptors carrying mutations associated with arrhythmogenic cardiac disease. The Biochemical journal. 2009 Apr 15;419(2):273-8

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PMID: 19226252

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