Abstract
First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not encountered by most clinicians, it is a paradigm for cancer predisposition and neurodegenerative disorders and has a central role in our understanding of the DNA-damage response, signal transduction and cell-cycle control. The discovery of the protein A-T mutated (ATM) that is deficient in A-T paved the way for rapid progress on understanding how ATM functions with a host of other proteins to protect against genome instability and reduce the risk of cancer and other pathologies.
MeSH terms
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Animals
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Ataxia Telangiectasia / complications
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Ataxia Telangiectasia / genetics
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Ataxia Telangiectasia / physiopathology*
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Ataxia Telangiectasia Mutated Proteins
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Cell Cycle Proteins / genetics
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Cell Cycle Proteins / physiology
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DNA Damage
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DNA Repair
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / physiology
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Genetic Predisposition to Disease
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Humans
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Insulin Resistance
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Metabolic Syndrome / etiology
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Mice
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Models, Biological
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Mutation
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Neoplasms / etiology
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Neoplasms / genetics
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Nerve Degeneration
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Protein Processing, Post-Translational
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Protein Serine-Threonine Kinases / genetics
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Protein Serine-Threonine Kinases / physiology
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Signal Transduction
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Tumor Suppressor Proteins / genetics
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Tumor Suppressor Proteins / physiology
Substances
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Cell Cycle Proteins
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DNA-Binding Proteins
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Tumor Suppressor Proteins
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ATM protein, human
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Ataxia Telangiectasia Mutated Proteins
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Atm protein, mouse
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Protein Serine-Threonine Kinases