Journal of Structural Biology 192 (2015) 331–335 Contents lists available at ScienceDirect Journal of Structural Biology journal homepage: www.elsevier.com/locate/yjsbi X-ray recordings reveal how a human disease-linked skeletal muscle a-actin mutation leads to contractile dysfunction a,⇑ b b b c Julien Ochala , Gianina Ravenscroft , Elyshia McNamara , Kristen J. Nowak , Hiroyuki Iwamoto Centre of Human and Aerospace Physiological Sciences, School of Biomedical Sciences, King’s College London, London, United Kingdom Harry Perkins Institute of Medical Research, The University of Western Australia, Nedlands, Australia Japan Synchrotron Radiation Research Institute, SPring8, Hyogo, Japan article i nfo abstract Article history: In humans, mutant skeletal muscle a-actin proteins are associated with contractile dysfunction, skeletal Received 16 May 2015 muscle weakness and a wide range of primarily skeletal muscle diseases. Despite this knowledge, the Received in revised form 13 August 2015 exact molecular mechanisms triggering the contractile dysfunction remain unknown. Here, we aimed Accepted 22 September 2015 to unravel these. Hence, we used a transgenic mouse model expressing a well-described D286G mutant Available online 25 September 2015 skeletal muscle a-actin protein and recapitulating the human condition of contractile deregulation and severe skeletal muscle weakness. We then recorded and analyzed the small-angle X-ray diffraction
Journal of Structural Biology – Elsevier
Published: Dec 1, 2015
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