Distinct Effects on Ca2+ Handling Caused by Malignant Hyperthermia and Central Core Disease Mutations in RyR1

This publication has 39 references indexed in Scilit:

• Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling
  American Journal of Physiology-Cell Physiology, 2004
• FKBP12 Binding to RyR1 Modulates Excitation-Contraction Coupling in Mouse Skeletal Myotubes
  Published by Elsevier ,2003
• The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease
  The Journal of general physiology, 2003
• Altered Ryanodine Receptor Function in Central Core Disease Leaky or Uncoupled Ca2+ Release Channels?
  Trends in Cardiovascular Medicine, 2002
• A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene
  Annals of Neurology, 2002
• Bi-directional coupling between dihydropyridine receptors and ryanodine receptors
  Frontiers in Bioscience-Landmark, 2002
• Malignant hyperthermia mutation Arg615Cys in the porcine ryanodine receptor alters voltage dependence of Ca²⁺ release
  The Journal of Physiology, 2000
• Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.
  Journal of Clinical Investigation, 1998
• Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor
  Nature, 1996
• The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres
  Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes, 1995