Lamins and other nuclear envelope proteins organize nuclear architecture through structural attachments that vary dynamically during the cell cycle and cell differentiation. Genetic studies have now shown that people with mutations in either lamins A/C or emerin, a nuclear membrane protein, develop Emery-Dreifuss muscular dystrophy. A mouse model for this rare disease has been created by knocking out the gene that encodes lamin A/C. This article discusses these and other recent results in the wider context of nuclear envelope function, as a framework for thinking about the possible ways in which defects in nuclear envelope proteins can lead to disease.
机构:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaJohn P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
Cao, H
Hegele, RA
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机构:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaJohn P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
机构:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaJohn P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada
Cao, H
Hegele, RA
论文数: 0引用数: 0
h-index: 0
机构:
John P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, CanadaJohn P Robarts Res Inst, Blackburn Cardiovasc Genet Lab, London, ON N6A 5K8, Canada