FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency

This study therefore identifies both BAG3 reduction and autophagy promotion as potential therapies for FLNCW2710X myofibrillar myopathy, and identifies protein insufficiency due to sequestration, compounded by impaired autophagy, as the cause.

Source: Human Molecular Genetics - October 23, 2016 Category: Genetics & Stem Cells Authors: Ruparelia, A. A., Oorschot, V., Ramm, G., Bryson-Richardson, R. J. Tags: ARTICLES Source Type: research