Severe protein aggregate myopathy in a knockout mouse model points to an essential role of cofilin2 in sarcomeric actin exchange and muscle maintenance

• Published in: European journal of cell biology Vol. 93; no. 5-6; pp. 252 - 266
• Main Authors: Gurniak, Christine B., Chevessier, Frédéric, Jokwitz, Melanie, Jönsson, Friederike, Perlas, Emerald, Richter, Hendrik, Matern, Gabi, Boyl, Pietro Pilo, Chaponnier, Christine, Fürst, Dieter, Schröder, Rolf, Witke, Walter
• Format: Journal Article
• Language: English
• Published: Germany Elsevier GmbH 01.05.2014
• Subjects: Actin isoform exchange; Actins - metabolism; Animals; Brain - metabolism; Cofilin 2 - genetics; Cofilin 2 - metabolism; Cofilin2; Cytoskeleton - genetics; Cytoskeleton - pathology; Mice, Inbred C57BL; Mice, Knockout; Muscle Development; Muscle, Skeletal - growth & development; Muscle, Skeletal - metabolism; Muscle, Skeletal - pathology; Muscle, Smooth - growth & development; Muscle, Smooth - metabolism; Muscular Diseases - genetics; Muscular Diseases - pathology; Myocardium - metabolism; Organ Specificity; Protein aggregate myopathy; Protein Aggregates - genetics; Sarcomere structure; Sarcomeres - metabolism; Muscle development; Sarcomere structure; Cofilin2; Protein aggregate myopathy; Actin isoform exchange

Mutations in the human actin depolymerizing factor cofilin2 result in an autosomal dominant form of nemaline myopathy. Here, we report on the targeted ablation of murine cofilin2, which leads to a severe skeletal muscle specific phenotype within the first two weeks after birth. Apart from skeletal m...