title: Ryanodine receptor studies using genetically engineered mice.
abstract: Ryanodine receptors (RyR) regulate intracellular Ca(2+) release in many cell types and have been implicated in a number of inherited human diseases. Over the past 15 years 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.
authors.affiliation: Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, New York, NY, USA.
authors.forename: Alexander
authors.initials: A
authors.lastname: Kushnir
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Betzenhauser
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Marks
mesh_terms: D000818:Animals; D001921:Brain / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D018482:Muscle, Skeletal / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D009130:Muscle, Smooth / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000166:cytology / Q000378:metabolism / Q000473:pathology; D019837:Ryanodine Receptor Calcium Release Channel / Q000378:metabolism*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel