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 originale | English |
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pagine (da-a) | N/A-N/A |
Rivista | Neuropathology and Applied Neurobiology |
DOI | |
Stato di pubblicazione | Pubblicato - 2013 |
Keywords
- Cav1.1
- RYR1
- SERCA
- intracellular calcium signals
- myotonic dystrophy
- myotubes