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  • Laminopathies and the long strange trip from basic cell biology to therapy
  • Worman HJ; Fong LG; Muchir A; Young SG
  • J Clin Invest 2009[Jul]; 119 (7): 1825-36
  • The main function of the nuclear lamina, an intermediate filament meshwork lying primarily beneath the inner nuclear membrane, is to provide structural scaffolding for the cell nucleus. However, the lamina also serves other functions, such as having a role in chromatin organization, connecting the nucleus to the cytoplasm, gene transcription, and mitosis. In somatic cells, the main protein constituents of the nuclear lamina are lamins A, C, B1, and B2. Interest in the nuclear lamins increased dramatically in recent years with the realization that mutations in LMNA, the gene encoding lamins A and C, cause a panoply of human diseases ("laminopathies"), including muscular dystrophy, cardiomyopathy, partial lipodystrophy, and progeroid syndromes. Here, we review the laminopathies and the long strange trip from basic cell biology to therapeutic approaches for these diseases.
  • |*Mutation[MESH]
  • |Animals[MESH]
  • |Cardiomyopathies/*etiology/therapy[MESH]
  • |Humans[MESH]
  • |Lamin Type A/*genetics[MESH]
  • |Lamin Type B/genetics[MESH]
  • |Lipodystrophy/*etiology/therapy[MESH]
  • |Membrane Proteins/genetics[MESH]
  • |Metalloendopeptidases/genetics[MESH]
  • |Muscular Dystrophies/*etiology/therapy[MESH]
  • |Nuclear Envelope/physiology[MESH]
  • |Nuclear Lamina/*physiology[MESH]
  • |Progeria/*etiology/therapy[MESH]
  • |Protein Processing, Post-Translational[MESH]





  • *{{pmid19587457}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=19587457 Laminopathies and the long strange trip from basic cell biology to therapy ]</b> J Clin Invest 2009; 119(7) ; 1825-36 Worman HJ; Fong LG; Muchir A; Young SG

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    J Clin Invest

    1825 7.119 2009