Article
X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction.
Journal of structural biology - 1 Dec 2015
Ochala Julien, Ravenscroft Gianina, McNamara Elyshia, Nowak Kristen J, Iwamoto Hiroyuki
Abstract excerpt
In humans, mutant skeletal muscle α-actin proteins are associated with contractile dysfunction, skeletal muscle weakness and a wide range of primarily skeletal muscle diseases. Despite this knowledge, the exact molecular mechanisms triggering the contractile dysfunction remain unknown. Here, we aimed to unravel these. Hence, we used a transgenic mouse model expressing a well-described D286G mutant skeletal muscle...
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