Life at the edge: the nuclear envelope and human disease.
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.
Burke
Brian
B
Department of Anatomy and Cell Biology, University of Florida, 1600 SW Archer Road, Gainesville, Florida 32610-0235, USA. bburke@anatomy.med.ufl.edu
Stewart
Colin L
CL
D000818:Animals; D005347:Fibroblasts / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D034882:Lamins; D008060:Lipodystrophy / Q000235:genetics / Q000503:physiopathology; D008954:Models, Biological; D008958:Models, Molecular; D018482:Muscle, Skeletal / Q000503:physiopathology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics / Q000503:physiopathology; D009685:Nuclear Envelope / Q000502:physiology* / Q000648:ultrastructure; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D017434:Protein Structure, Tertiary
D034882:Lamins; D009687:Nuclear Proteins