Catalytically inactive Atm abrogates DSB repair more than Atm absence, without causing a marked neur

来源 :The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern | 被引量 : 0次 | 上传用户：li875

【摘要】

：

　　Cerebellar atrophy is the major, most devastating clinical feature of A-T,characterized by gradual relentless loss of Purkinje and granular neurons.Most ATM

【作者】

：

EfratTal[1]MarinaAlfo[1]RotemGranit[1]ShanZha[2]ChrisIDeZeeuw[2]Netherlands[3]YaelZiv[1]YosefShiloh[1]

【机构】

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Tel Aviv University

【出处】

：

The 16th Ataxia-Telangiectasia Workshop (ATW-2015)6th Intern

【发表日期】

：

2015年期

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　　Cerebellar atrophy is the major, most devastating clinical feature of A-T,characterized by gradual relentless loss of Purkinje and granular neurons.Most ATM mutations leading to classical A-T truncate the ATM protein, and the instability of truncated ATM leaves most patients with no ATM protein at all.

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Catalytically inactive Atm abrogates DSB repair more than Atm absence, without causing a marked neur

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