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  • Diseases of the nuclear envelope
  • Worman HJ; Ostlund C; Wang Y
  • Cold Spring Harb Perspect Biol 2010[Feb]; 2 (2): a000760
  • In the past decade, a wide range of fascinating monogenic diseases have been linked to mutations in the LMNA gene, which encodes the A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. These diseases include dilated cardiomyopathy with variable muscular dystrophy, Dunnigan-type familial partial lipodystrophy, a Charcot-Marie-Tooth type 2 disease, mandibuloacral dysplasia, and Hutchinson-Gilford progeria syndrome. Several diseases are also caused by mutations in genes encoding B-type lamins and proteins that associate with the nuclear lamina. Studies of these so-called laminopathies or nuclear envelopathies, some of which phenocopy common human disorders, are providing clues about functions of the nuclear envelope and insights into disease pathogenesis and human aging.
  • |*Mutation[MESH]
  • |Animals[MESH]
  • |Cell Nucleus/*metabolism[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Genetic Diseases, Inborn/genetics[MESH]
  • |Humans[MESH]
  • |Lamin Type A/metabolism/*physiology[MESH]
  • |Models, Biological[MESH]
  • |Models, Genetic[MESH]
  • |Nuclear Envelope/*pathology[MESH]
  • |Nuclear Lamina/metabolism[MESH]
  • |Phenotype[MESH]
  • |Progeria/genetics[MESH]

  • *{{pmid20182615}}
    *<b>[ Diseases of the nuclear envelope ]</b> Cold Spring Harb Perspect Biol 2010; 2(2) ; a000760 Worman HJ; Ostlund C; Wang Y


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    Cold Spring Harb Perspect Biol

    a000760 2.2 2010