Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
The skeletal muscle ryanodine receptor isoform 1 (RyR1) is a calcium release channel involved in excitation-contraction coupling, the process whereby an action potential is translated to a cytoplasmic Ca(2+) signal that activates muscle contraction. Dominant and recessive mutations in RYR1 cause a range of muscle disorders, including malignant hyperthermia and several forms of congenital myopathies. Many aspects of disease pathogenesis in ryanodinopathies remain uncertain, particularly for those myopathies due to recessive mutations. A thorough understanding of the ryanodine receptor macromolecular complex and its interactions with proteins and small molecular modulators is an essential starting point from which to investigate disease mechanisms.
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, 2145, Australia.
Jean H
JH
Hwang
Francesco
F
Zorzato
Nigel F
NF
Clarke
Susan
S
Treves
D000818:Animals; D020013:Calcium Signaling; D002135:Calcium-Binding Proteins / Q000737:chemistry / Q000378:metabolism; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D011485:Protein Binding; D060066:Protein Interaction Maps; D020836:Protein Structure, Quaternary; D017434:Protein Structure, Tertiary; D019837:Ryanodine Receptor Calcium Release Channel / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
D002135:Calcium-Binding Proteins; D019837:Ryanodine Receptor Calcium Release Channel