| Literature DB >> 12154369 |
Brian Burke1, Colin L Stewart.
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.Entities:
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Year: 2002 PMID: 12154369 DOI: 10.1038/nrm879
Source DB: PubMed Journal: Nat Rev Mol Cell Biol ISSN: 1471-0072 Impact factor: 94.444