Article
A myopathy-linked tropomyosin mutation severely alters thin filament conformational changes during activation.
Proceedings of the National Academy of Sciences of the United States of America - 25 May 2010
Ochala Julien, Iwamoto Hiroyuki, Larsson Lars, Yagi Naoto
Abstract excerpt
Human point mutations in beta- and gamma-tropomyosin induce contractile deregulation, skeletal muscle weakness, and congenital myopathies. The aim of the present study was to elucidate the hitherto unknown underlying molecular mechanisms. Hence, we recorded and analyzed the X-ray diffraction patterns of human membrane-permeabilized muscle cells expressing a particular beta-tropomyosin mutation (R133W) associated...
Topics
- Actin Cytoskeleton
- Humans
- Muscular Diseases
- Mutation
- Stress, Mechanical
- Tropomyosin
- X-Ray Diffraction