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 signalling.
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 Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes., <<NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY>>, 2014; 40 (4): 464-476. [doi:10.1111/nan.12076] [https://hdl.handle.net/10807/64016]
Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.
Santoro, Massimo;Piacentini, Roberto;Masciullo, Marcella;Bianchi, Maria Laura Ester;Modoni, Anna;Podda, Maria Vittoria;Ricci, Enzo;Silvestri, Gabriella;Grassi, Claudio
2014
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 signalling.
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