Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.

@article{Br2005PathogenicEO,
  title={Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro.},
  author={Harald B{\"a}r and Dirk Fischer and Bertrand Goudeau and Rudolf Andr{\'e} Kley and C S Clemen and Patrick Vicart and Harald Herrmann and Matthias Vorgerd and R. K. Schroeder},
  journal={Human molecular genetics},
  year={2005},
  volume={14 10},
  pages={1251-60}
}
Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Here, we report the pathogenic effects of a novel heterozygous R350P desmin missense mutation, which resides in the evolutionary highly conserved coil 2B domain of the alpha-helical coiled-coil desmin rod domain, on the assembly of desmin intermediate filaments (IF) in cultured cells and in vitro. By transfection experiments, we show that… CONTINUE READING

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