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Life at the edge: The nuclear envelope and human disease

  1. Author:
    Burke, B.
    Stewart, C. L.

  2. Author Address

    Univ Florida, Dept Anat & Cell Biol, 1600 SW Archer Rd, Gainesville, FL 32610 USA Univ Florida, Dept Anat & Cell Biol, Gainesville, FL 32610 USA NCI, Lab Canc & Dev Biol, FCRDC, Frederick, MD 21701 USA Burke B Univ Florida, Dept Anat & Cell Biol, 1600 SW Archer Rd, Gainesville, FL 32610 USA
    1. Year: 2002
  2. Journal: Nature Reviews Molecular Cell Biology
    1. 3
    2. 8
    3. Pages: 575-585
  4. Type of Article: Review
  1. Abstract:

    A group of human diseases, known as 'laminopathies', are associated with defects in proteins of the nuclear envelope. Most laminopathy mutations have been mapped to the A-type lamin gene, which is expressed in most adult cell types. So, why should different mutations in a near-ubiquitously expressed gene be associated with various discrete tissue-restricted diseases? Attempts to resolve this paradox are uncovering new molecular interactions - both inside the nucleus and at its periphery - which indicate that the nuclear envelope has functions that go beyond mere housekeeping.

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