Genetic disorders of the cytoskeleton

E. Fuchs, Y. Yang, J. Dowling, Su Hao Lo, Q. Yu, E. Allen, L. Degenstein, E. Lee

Research output: Contribution to journalArticlepeer-review


The cytoskeleton i.s an intricate network composed of intermediate filaments (IFs), actin inicrofilaments and microtubujes. \Ve have been interested in the molecular nature and functional significance of the interactions between the cytoskeleton and other cellular components, i.e. in how cytoskeletal architecture is established. In our studies, we have used a combination of genetic, molecular, cellular and biochemical approaches, in addition to embryonic stem cell technology and gene targeting. Our major focus has been on IFs. which are especially abundant in epidermal keratinocytes and in neurons. I sing a reverse genetic approach, we showed that a group of different blistering skin disorders have as their underlying basis defects in different keratin genes. From these studies, it is likely that a number of degenerative disorders of sensory and motor neurons, involve either directly or indirectly, perturbations in the neuroh'lament network. Recently, we have focused our attention on the molecular nature of attachments between IFs and other proteins nnd organelles within cells. Particularly, we have focused on the nature of the attachment of IFs to other cytoskeletal components and to integrin-mediaU'd cell adhesion junctions. This work has led to the unexpected discovery of an additional set of disorders of the cytoskeleton.

Original languageEnglish (US)
JournalFASEB Journal
Issue number9
StatePublished - 1997
Externally publishedYes

ASJC Scopus subject areas

  • Agricultural and Biological Sciences (miscellaneous)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Biochemistry
  • Cell Biology


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