Functions of the nuclear envelope and lamina in development and disease.
Recent findings that some 24 inherited diseases and anomalies are caused by defects in proteins of the NE (nuclear envelope) and lamina have resulted in a fundamental reassessment of the functions of the NE and underlying lamina. Instead of just regarding the NE and lamina as a molecular filtering device, regulating the transfer of macromolecules between the cytoplasm and nucleus, we now envisage the NE/lamina functioning as a key cellular 'hub' in integrating critical functions that include chromatin organization, transcriptional regulation, mechanical integrity of the cell and signalling pathways, as well as acting as a key component in the organization and function of the cytoskeleton.
Cohen
Tatiana V
TV
Center for Genetic Medicine, Children's National Medical Center, NW Washington, DC 20010, USA.
Hernandez
Lidia
L
Stewart
Colin L
CL
D000818:Animals; D004194:Disease; D004195:Disease Models, Animal; D047108:Embryonic Development; D006801:Humans; D034882:Lamins / Q000235:genetics / Q000378:metabolism; D054792:Muscle, Striated / Q000473:pathology; D034881:Nuclear Lamina / Q000378:metabolism*
D034882:Lamins