Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.

@article{Ambrose2013PathogenesisOA,
  title={Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.},
  author={Mark Ambrose and Richard A. Gatti},
  journal={Blood},
  year={2013},
  volume={121 20},
  pages={4036-45}
}
In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1. It was eventually cloned in 1995. Many independent laboratories have since demonstrated that in replicating cells, ataxia telangiectasia mutated (ATM) is predominantly a nuclear protein that is involved in the early recognition and response to double-stranded DNA breaks. ATM is a high-molecular-weight PI3K-family kinase. ATM also plays many important cytoplasmic roles… CONTINUE READING
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