Alternative splicing alterations of Ca(2+) handling genes are associated with Ca(2+) signal dysregulation in DM1 and DM2 myotubes

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

29 Citazioni (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 signaling.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaNeuropathology and Applied Neurobiology
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

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

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