Details

Autor(en) / Beteiligte

• Worman, Howard J
• Fong, Loren G
• Muchir, Antoine
• Young, Stephen G

Titel

Laminopathies and the long strange trip from basic cell biology to therapy

Ist Teil von

• The Journal of clinical investigation, 2009-07, Vol.119 (7), p.1825-1836

Ort / Verlag

United States: American Society for Clinical Investigation

Erscheinungsjahr

2009

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.