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Nat Rev Mol Cell Biol. 2002 Aug;3(8):575-85.

Life at the edge: the nuclear envelope and human disease.

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  • 1Department of Anatomy and Cell Biology, University of Florida, 1600 SW Archer Road, Gainesville, Florida 32610-0235, USA. bburke@anatomy.med.ufl.edu

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.

PMID:
12154369
[PubMed - indexed for MEDLINE]
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