Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.

@article{Br2010MutationsID,
  title={Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.},
  author={Harald B{\"a}r and Michael Schopferer and Sarika Sharma and Bernhard Hochstein and Norbert M{\"u}cke and Hartmut Herrmann and Norbert Dr. Willenbacher},
  journal={Journal of molecular biology},
  year={2010},
  volume={397 5},
  pages={
          1188-98
        }
}
Inherited mutations in the gene coding for the intermediate filament protein desmin have been demonstrated to cause severe skeletal and cardiac myopathies. Unexpectedly, some of the mutated desmins, in particular those carrying single amino acid alterations in the non-alpha-helical carboxy-terminal domain ("tail"), have been demonstrated to form apparently normal filaments both in vitro and in transfected cells. Thus, it is not clear if filament properties are affected by these mutations at all… CONTINUE READING
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