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EMBO reports 5, 8, 772–776 (2004)
doi:10.1038/sj.embor.7400210
ATM and ataxia telangiectasia
Second in Molecular Medicine Review Series
Peter J. McKinnon
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Department of Genetics and Tumor Cell Biology, St Jude Children's Research Hospital, 332 N.Lauderdale, Memphis, Tennessee 38105, USA Tel: +1 901 495 2700; Fax: +1 901 526 2907; e-mail: peter.mckinnon@stjude.org
Received 21 May 2004; Accepted 23 June 2004.
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Abstract
Ataxia telangiectasia (AT) has long intrigued the biomedical research community owing to the spectrum of defects that are characteristic of the disease, including neurodegeneration, immune dysfunction, radiosensitivity and cancer predisposition. Following the identification of mutations in ATM (ataxia telangiectasia, mutated) as the underlying cause of the disease, biochemical analysis of this protein kinase has shown that it is a crucial nexus for the cellular response to DNA double-stranded breaks. Many ATM kinase substrates are important players in the cellular responses that prevent cancer. Accordingly, AT is a disease that results from defects in the response to specific types of DNA damage. Thus, although it is a rare neurodegenerative disease, understanding the biology of AT will lead to a greater understanding of the fundamental processes that underpin cancer and neurodegeneration.
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