Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling
T Kimura, JD Lueck, PJ Harvey, SM Pace, N Ikemoto… - Cell calcium, 2009 - Elsevier
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 and interactions of the ASI …
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 and interactions of the ASI …