The nuclear envelope and human disease.
Mutations in nuclear lamins A and C, intermediate filament proteins of the nuclear envelope, cause diseases affecting various tissues and the aging process. We review what is known about nuclear lamin function and the different diseases caused by mutations in lamins A and C and associated inner nuclear membrane proteins.
Muchir
Antoine
A
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Worman
Howard J
HJ
D000818:Animals; D006801:Humans; D034882:Lamins / Q000502:physiology*; D009140:Musculoskeletal Diseases / Q000503:physiopathology*; D009685:Nuclear Envelope / Q000502:physiology*
D034882:Lamins