Kimura, Takashi; Lueck, John D; Harvey, Peta; Pace, Suzy M; Ikemoto, Noriaki; Casarotto, Marco; Dirksen, Robert; Dulhunty, Angela
Alternative splicing of ASI residues (Ala3481-Gln3485) in the skeletal muscle ryanodine receptor (RyR1) is developmentally regulated: the residues are present in adult ASI(+)RyR1, but absent in the juvenile ASI(-)RyR1 which is over-expressed in adult myotonic dystrophy type 1 (DM1). Although this splicing switch may influence RyR1 function in developing muscle and DM1, little is known about the properties of the splice variants. We examined excitation-contraction (EC) coupling and the structure...[Show more]
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