Ryanodine receptor studies using genetically engineered mice

Alexander Kushnir, Matthew J. Betzenhauser, Andrew R. Marks

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


Ryanodine receptors (RyR) regulate intracellular Ca2+ release in many cell types and have been implicated in a number of inherited human diseases. Over the past 15years genetically engineered mouse models have been developed to elucidate the role that RyRs play in physiology and pathophysiology. To date these models have implicated RyRs in fundamental biological processes including excitation-contraction coupling and long term plasticity as well as diseases including malignant hyperthermia, cardiac arrhythmias, heart failure, and seizures. In this review we summarize the RyR mouse models and how they have enhanced our understanding of the RyR channels and their roles in cellular physiology and disease.

Original languageEnglish (US)
Pages (from-to)1956-1965
Number of pages10
JournalFEBS Letters
Issue number10
StatePublished - May 2010
Externally publishedYes


  • Calstabin2
  • Excitation-contraction coupling
  • Ryanodine receptor
  • Transgenic mice

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology


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