The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.
Santoro, M., Piacentini, R., Masciullo, M., Bianchi, M. L. E., Modoni, A., Podda, M. V., Ricci, E., Silvestri, G., Grassi, C., Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes, <<NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY>>, 2013; (N/A): N/A-N/A. [doi:10.1111/nan.12076] [http://hdl.handle.net/10807/45629]
Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes
Santoro, Massimo;Piacentini, Roberto;Masciullo, Marcella;Bianchi, Maria Laura Ester;Modoni, Anna;Podda, Maria Vittoria;Ricci, Enzo;Silvestri, Gabriella;Grassi, Claudio
2013
Abstract
The pathogenesis of myotonic dystrophy type 1 (DM1) and type 2 (DM2) has been related to the aberrant splicing of several genes, including those encoding for ryanodine receptor 1 (RYR1), sarcoplasmatic/endoplasmatic Ca(2+) -ATPase (SERCA) and α1S subunit of voltage-gated Ca(2+) channels (Cav 1.1). The aim of this study is to determine whether alterations of these genes are associated with changes in the regulation of intracellular Ca(2+) homeostasis and signaling.
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