Gabriel E. Valdebenito

ArticleOnline now102448Open access 1Department of Cell and Developmental Biology, UCL, Gower Street, London WC1E 6BT, UK 2Consortium for Mitochondrial Research, UCL, Gower Street, London WC1E 6BT, UK 3Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK 4Ryvu Therapeutics S.A., Krakow, Poland 5Bart’s Cancer Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK 6Stem Cells and Neuromuscular Regeneration...

Abstract Mutations in mitochondrial DNA cause severe multisystem disease, frequently associated with muscle weakness. The m.3243A>G mutation is the major cause of Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke Like episodes (MELAS). Experimental models that recapitulate the disease phenotype in vitro for disease modelling or drug screening are very limited.

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