Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.

Roberto Piacentini, Maria Vittoria Podda, Enzo Ricci, Gabriella Silvestri, Claudio Grassi, Massimo Santoro, Marcella Masciullo, Maria Laura Ester Bianchi, Anna Modoni

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)464-476
Number of pages13
JournalNeuropathology and Applied Neurobiology
Volume40 (4)
DOIs
Publication statusPublished - 2014

Keywords

  • Cav1.1
  • RYR1
  • SERCA
  • intracellular calcium signals
  • myotonic dystrophy
  • myotubes

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