Article
Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia.
British medical bulletin - 1 Jan 2007
Lavin Martin F, Gueven Nuri, Bottle Stephen, Gatti Richard A
Abstract excerpt
Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, a high risk of cancer and immunodeficiency. These patients are also hypersensitive to radiotherapy. The gene product defective in this syndrome, ATM (ataxia-telangiectasia mutated), normally recognizes DNA damage and signal to the DNA repair machinery and the cell cycle checkpoints to...
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