【摘 要】
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Ataxia-telangiectasia (A-T) is a neurodegenerative disease with autosomal recessive inheritance and, despite being monogenic, is characterized by a very pleiotropic phenotype.Since the major functions
【机 构】
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University of Urbino,Italy Sapienza University,It
【出 处】
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The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern
论文部分内容阅读
Ataxia-telangiectasia (A-T) is a neurodegenerative disease with autosomal recessive inheritance and, despite being monogenic, is characterized by a very pleiotropic phenotype.Since the major functions of ATM are the regulatation of the cellular redox homeostasis and the DNA damage response, lacking of the kinase leads to the impairment of a very large network of signalling pathways, including metabolic pathways.
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