Article
BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.
Journal of muscle research and cell motility - 1 Dec 2015
Kostera-Pruszczyk Anna, Suszek Małgorzata, Płoski Rafał, Franaszczyk Maria, Potulska-Chromik Anna, Pruszczyk Piotr, Sadurska Elżbieta, Karolczak Justyna, Kamińska Anna M, Rędowicz Maria Jolanta
Abstract excerpt
BAG3 belongs to BAG family of molecular chaperone regulators interacting with HSP70 and anti-apoptotic protein Bcl-2. It is ubiquitously expressed with strong expression in skeletal and cardiac muscle, and is involved in a panoply of cellular processes. Mutations in BAG3 and aberrations in its expression cause fulminant myopathies, presenting with progressive limb and axial muscle weakness, and respiratory...
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