Skip navigation
Skip navigation

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1

Kimura, Takashi; Nakamori, Masayuki; Lueck, John D; Pouliquin, Pierre; Aoike, Futoshi; Fujimura, Harutoshi; Dirksen, Robert; Takahashi, Masanori; Dulhunty, Angela; Sakoda, Saburo

Description

Myotonic dystrophy type 1 (DM1) is a debilitating multisystemic disorder caused by a CTG repeat expansion in the DMPK gene. Aberrant splicing of several genes has been reported to contribute to some symptoms of DM1, but the cause of muscle weakness in DM1 and elevated Ca2+ concentrations in cultured DM muscle cells is unknown. Here, we investigated the alternative splicing of mRNAs of two major proteins of the sarcoplasmic reticulum, the ryanodine receptor 1 (RyR1) and sarcoplasmic/endoplasmic...[Show more]

CollectionsANU Research Publications
Date published: 2005
Type: Journal article
URI: http://hdl.handle.net/1885/73875
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddi223

Download

File Description SizeFormat Image
01_Kimura_Altered_mRNA_splicing_of_the_2005.pdf430.19 kBAdobe PDF    Request a copy


Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.

Updated:  20 July 2017/ Responsible Officer:  University Librarian/ Page Contact:  Library Systems & Web Coordinator