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- Title
Life at the edge: the nuclear envelope and human disease.
- Authors
Burke, Brian; Stewart, Colin L.
- 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.
- Subjects
DISEASES; PROTEINS; NUCLEAR membranes; GENETIC mutation; MEDICAL genetics
- Publication
Nature Reviews Molecular Cell Biology, 2002, Vol 3, Issue 8, p575
- ISSN
1471-0072
- Publication type
Article
- DOI
10.1038/nrm879