The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

Ching-Chieh Tung, Paolo A. Lobo, Lynn Kimlicka and Filip Van Petegem ()
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Ching-Chieh Tung: University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
Paolo A. Lobo: University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
Lynn Kimlicka: University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
Filip Van Petegem: University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada

Nature, 2010, vol. 468, issue 7323, 585-588

Abstract: Muscle disease link to ryanodine Ryanodine receptors are large ion channels that mediate the release of Ca2+ from the endoplasmic or sarcoplasmic reticulum, and mutations in these receptors can lead to severe genetic conditions in both cardiac and skeletal muscles. The X-ray crystal structure of a type 1 ryanodine receptor is now reported. The exact locations of more than 50 disease-related mutations have been found in the full-length receptor. The disease mutations seem to cause misfolding of an individual domain, to destabilize interactions between the three N-terminal domains, or to otherwise affect one of the other domain interfaces.

Date: 2010
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DOI: 10.1038/nature09471

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