@article{2ddd30603e9c4ce1b07e8f90d4f69e16,
title = "Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes.",
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.",
keywords = "Cav1.1, RYR1, SERCA, intracellular calcium signals, myotonic dystrophy, myotubes, Cav1.1, RYR1, SERCA, intracellular calcium signals, myotonic dystrophy, myotubes",
author = "Massimo Santoro and Roberto Piacentini and Marcella Masciullo and Bianchi, {Maria Laura Ester} and Anna Modoni and Podda, {Maria Vittoria} and Enzo Ricci and Gabriella Silvestri and Claudio Grassi",
year = "2014",
doi = "10.1111/nan.12076,2013",
language = "English",
volume = "40 (4)",
pages = "464--476",
journal = "Neuropathology and Applied Neurobiology",
issn = "0305-1846",
publisher = "Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205",
}