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Review
. 2008 Oct;9(10):759-69.
doi: 10.1038/nrm2514.

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer (V体育2025版)

Martin F Lavin  1
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Review

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer

Martin F Lavin (V体育安卓版). Nat Rev Mol Cell Biol. 2008 Oct.

Erratum in

  • Nat Rev Mol Cell Biol. 2008 Dec;9(12). doi: 10.1038/nrm2514

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. VSports手机版.

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