Cytoskeletal catastrophe causes brain degeneration

A number of spontaneous mutations in GFAP, encoding an astrocyte-specific intermediate filament protein, causes a neurodegenerative disease. It seems probable that these mutations effect gain of function of the GFAP filament and thereby have an impact on the cytoskeletal architecture and interactions.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

References

  1. 1

    Messing, A. et al. Nature Genet. 27, 117– 120 (2001).

  2. 2

    Quinlan, R.A., Hutchison, C.J. & Lane, E.B. Protein Profiles 2, 801– 952 (1995).

  3. 3

    Irvine, A.D. & McLean, W.H.I. Br. J. Dermatol. 140, 815–828 (1999).

  4. 4

    Conley, Y.P. et al. Am. J. Hum. Genet. 66, 1426– 1431 (2000).

  5. 5

    Raffaele Di Barletta, M. et al. Am. J. Hum. Genet. 66, 1407– 1412 (2000).

  6. 6

    Perng, M.D. et al. J. Cell Sci. 112, 2099– 2112 (1999).

  7. 7

    Mann, E., McDermott, M.J., Goldman, J., Chiesa, R. & Spector, A. FEBS Lett. 294, 133–136 (1991).

  8. 8

    Tomokane, N., Iwaki, T., Tateishi, J., Iwaki, A. & Goldman, J.E. Am. J. Pathol. 138, 875– 885 (1991).

  9. 9

    Shibuki, K. et al. Neuron 16, 587–599 (1996).

  10. 10

    Pekny, M. et al. EMBO J. 14, 1590–1598 (1995).

  11. 11

    Pekny, M. et al. J. Cell Biol. 145, 503– 514 (1999).

  12. 12

    Messing, A. et al. Am. J. Pathol. 152, 391– 398 (1998).

  13. 13

    Li, D. et al. Circulation 100, 461–464 (1999).

  14. 14

    Cary, R.B. & Klymkowsky, M.W. Development 121 , 1041–1052 (1995).

  15. 15

    Eliasson, C. et al. J. Biol. Chem. 274, 23996– 24006 (1999).

  16. 16

    Herrmann, H. & Aebi, U. Curr. Opin. Cell Biol. 12, 79–90 (2000).

  17. 17

    Perng M.D. et al. J. Biol. Chem. 274, 33235– 33243 (1999).

  18. 18

    Fairley, E.A.L., Kendrick-Jones, J. & Ellis, J.A. J. Cell Sci. 112, 2571– 2582 (1999).

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Quinlan, R. Cytoskeletal catastrophe causes brain degeneration. Nat Genet 27, 10–11 (2001) doi:10.1038/83657

Download citation

Further reading