How do mutations in lamins A and C cause disease?

The Journal of clinical investigation (2004-02-03)
Howard J Worman, Jean-Claude Courvalin
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 (see the related articles beginning on pages 357 and 370) 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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Anti-Lamin A/C R482W antibody, Mouse monoclonal, clone 5H8-B4, purified from hybridoma cell culture
Sigma-Aldrich
Anti-Lamin A/C R453W antibody, Mouse monoclonal, clone 12A-2F5, purified from hybridoma cell culture

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