Article
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Human molecular genetics - 1 Jul 2018
Suman Matteo, Sharpe Jenny A, Bentham Robert B, Kotiadis Vassilios N, Menegollo Michela, Pignataro Viviana, Molgó Jordi, Muntoni Francesco, Duchen Michael R, Pegoraro Elena, Szabadkai Gyorgy
Abstract excerpt
Core myopathies are a group of childhood muscle disorders caused by mutations of the ryanodine receptor (RyR1), the Ca2+ release channel of the sarcoplasmic reticulum. These mutations have previously been associated with elevated inositol trisphosphate receptor (IP3R) levels in skeletal muscle myotubes derived from patients. However, the functional relevance and the relationship of IP3R mediated Ca2+ signalling...
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