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PMID: 12154369 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

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

Nature reviews. Molecular cell biology ·Vol. 3 ·No. 8 ·2002-08-00 ·Pages 575-85

Burke B, Stewart CL

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.

MeSH Terms
Animals Fibroblasts/metabolism,ultrastructure Humans Lamins Lipodystrophy/genetics,physiopathology Models, Biological Models, Molecular Muscle, Skeletal/physiopathology,ultrastructure Muscular Diseases/genetics,physiopathology Nuclear Envelope/physiology,ultrastructure Nuclear Proteins/genetics,metabolism Protein Structure, Tertiary
Chemicals
Lamins Nuclear Proteins
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Burke Brian
Department of Anatomy and Cell Biology, University of Florida, 1600 SW Archer Road, Gainesville, Florida 32610-0235, USA. [email protected]
Stewart Colin L
Article Info
Journal
Nature reviews. Molecular cell biology
Abbr.
Nat Rev Mol Cell Biol
ISSN
1471-0072
Published
2002-08-00
Pages
575-85
Language
English
Region
England
NLM ID
100962782
Subset
IM
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