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- W2136883575 abstract "The pleiotropic nature of the clinical phenotypes of patients with ataxia-telangiectasia (A-T) – which encompass cerebellar degeneration (leading to ataxia), gonadal atrophy, and cancer predisposition – suggests multiple functions of the gene responsible for the disease. The ataxia-telangiectasia mutated gene product (ATM), whose loss of function is responsible for ataxia-telangiectasia, is a protein kinase that interacts with several substrates and is implicated in mitogenic signal transduction, chromosome condensation, meiotic recombination, cell-cycle control and telomere maintenance. This review focuses on the critical roles that ATM appears to play in cell-cycle checkpoints, DNA repair, telomere metabolism and oxidative stress, indicating how defects in these processes might lead to ataxia-telangiectasia." @default.
- W2136883575 created "2016-06-24" @default.
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- W2136883575 date "2003-06-20" @default.
- W2136883575 modified "2023-10-16" @default.
- W2136883575 title "A multifaceted role for ATM in genome maintenance" @default.
- W2136883575 doi "https://doi.org/10.1017/s1462399403006318" @default.
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