Ataxia telangiectasia: cell signaling, cell death and the cell cycle.
Cloning of the gene responsible for ataxia telangiectasia is a landmark achievement in the study of this devastating disease. The specific properties of the product of the mutation causing ataxia telangiectasia and the clinical features of this disease place this protein at the centre of a cell cycle checkpoint critical for DNA damage and suggest a fundamental mechanistic relationship between cell death and the cell cycle.
Heintz
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Howard Hughes Medical Institute, Rockefeller University, New York, NY 10021, USA.
D001260:Ataxia Telangiectasia / Q000503:physiopathology*; D016923:Cell Death / Q000502:physiology; D006801:Humans; D015398:Signal Transduction / Q000502:physiology