Article
Blockage of autophagy causes severe skeletal muscle disruption in a mouse model for myofibrillar myopathy 6.
Nature communications - 11 Apr 2026
Filippi Kerstin, Graf-Riesen Kathrin, Kuppusamy Maithreyan, Unger Andreas, Kimura Kenichi, Matijass Martin, Baeta Henrique, Podlacha Magdalena, Haertter Daniel, Kudin Alexei P, Wiemann Martin, Węgrzyn Grzegorz, Kornblum Cornelia, Reimann Jens, Linke Wolfgang A, Huesgen Pitter F, Kunz Wolfram S, Fleischmann Bernd K, Hesse Michael
Abstract excerpt
Myofibrillar myopathy 6 is a rare, autosomal-dominant neuromuscular disorder caused by an amino acid exchange Pro209Leu in the co-chaperone BAG3, which disrupts muscle protein turnover and causes severe muscle weakness and shortened lifespan. We generated transgenic mice overexpressing the human mutant BAG3P209L-GFP, which rapidly develop skeletal muscle weakness unlike controls expressing BAG3WT-GFP. Here we...
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