Article
Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.
Nature reviews. Molecular cell biology - 1 Oct 2008
Lavin Martin F
Abstract excerpt
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...
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