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Article

Disease mutations in the ryanodine receptor central region: crystal structures of a phosphorylation hot spot domain.

Structure (London, England : 1993) - 3 Jul 2012

Yuchi Zhiguang, Lau Kelvin, Van Petegem Filip

Abstract excerpt

Ryanodine Receptors (RyRs) are huge Ca²⁺ release channels in the endoplasmic reticulum membrane and form targets for phosphorylation and disease mutations. We present crystal structures of a domain in three RyR isoforms, containing the Ser2843 (RyR1) and Ser2808/Ser2814 (RyR2) phosphorylation sites. The RyR1 domain is the target for 11 disease mutations. Several of these are clustered near the phosphorylation...

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Identifiers

PMID: 22705209
DOI: 10.1016/j.str.2012.04.015

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