Access
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
Review
Nature Reviews Molecular Cell Biology 9, 759–769 (1 October 2008) | doi:10.1038/nrm2514
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
Abstract
First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not encountered by most clinicians, it is a paradigm for cancer predisposition and neurodegenerative disorders and has a central role in our understanding of the DNA-damage response, signal transduction and cell-cycle control. The discovery of the protein A-T mutated (ATM) that is deficient in A-T paved the way for rapid progress on understanding how ATM functions with a host of other proteins to protect against genome instability and reduce the risk of cancer and other pathologies.
To read this article in full you may need to log in, make a payment or gain access through a site license (see right).
