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Usage Information

How do mutations in lamins A and C cause disease?
Howard J. Worman, Jean-Claude Courvalin
Howard J. Worman, Jean-Claude Courvalin
Published February 1, 2004
Citation Information: J Clin Invest. 2004;113(3):349-351. https://doi.org/10.1172/JCI20832.
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Commentary

How do mutations in lamins A and C cause disease?

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Abstract

Mutations in lamins A and C, nuclear intermediate-filament proteins in nearly all somatic cells, cause a variety of diseases that primarily affect striated muscle, adipocytes, or peripheral nerves or cause features of premature aging. Two new studies use lamin A/C–deficient mice, which develop striated muscle disease, as a model to investigate pathogenic mechanisms. These reports provide evidence for a stepwise process in which mechanically stressed cells first develop chromatin and nuclear envelope damage and then develop secondary alterations in the transcriptional activation of genes in adaptive and protective pathways.

Authors

Howard J. Worman, Jean-Claude Courvalin

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Usage data is cumulative from May 2024 through May 2025.

Usage JCI PMC
Text version 655 447
PDF 85 23
Figure 240 0
Table 43 0
Citation downloads 61 0
Totals 1,084 470
Total Views 1,554
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