Review
doi: 10.1038/nrm879.Life at the edge: the nuclear envelope and human disease
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- PMID:12154369
- DOI: 10.1038/nrm879
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Review
Life at the edge: the nuclear envelope and human disease
Brian Burke et al. Nat Rev Mol Cell Biol.2002 Aug.
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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 #151; 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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