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.
2014
Inglese
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]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/64016
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