Ryanodine receptor dysfunction in human disorders

Alexander Kushnir, Benjamin Wajsberg, Andrew R. Marks

Research output: Contribution to journalArticlepeer-review

72 Scopus citations


Regulation of intracellular calcium (Ca 2+ ) is critical in all cell types. The ryanodine receptor (RyR), an intracellular Ca 2+ release channel located on the sarco/endoplasmic reticulum (SR/ER), releases Ca 2+ from intracellular stores to activate critical functions including muscle contraction and neurotransmitter release. Dysfunctional RyR-mediated Ca 2+ handling has been implicated in the pathogenesis of inherited and non-inherited conditions including heart failure, cardiac arrhythmias, skeletal myopathies, diabetes, and neurodegenerative diseases. Here we have reviewed the evidence linking human disorders to RyR dysfunction and describe novel approaches to RyR-targeted therapeutics.

Original languageEnglish (US)
Pages (from-to)1687-1697
Number of pages11
JournalBiochimica et Biophysica Acta - Molecular Cell Research
Issue number11
StatePublished - Nov 2018
Externally publishedYes


  • Alzheimer's disease
  • Arrhythmias
  • CPVT
  • Diabetes
  • Duchenne muscular dystrophy
  • Heart failure
  • PTSD
  • Sarcopenia
  • Sudden cardiac death

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology


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