发明名称 RECQL4/RECQL4 VARIANT-P53 COMPLEX FOR ALTERED MITOCHONDRIAL FUNCTION IN ROTHMUND-THOMSON SYNDROME
摘要 <p>The present invention discloses a functional interaction of the p53 with RECQL4/RECQL4 variant. The present invention further discloses co localization of RECQL4/RECQL4 variant and p53 complex in the mitochondrial nucleoids. The MLS at the N-terminus of RECQL4 that binds to Tom 20 receptor complex and transport RECQL4/RECQL4 variant-p53 complex into the mitochondria has been identified. Further the invention discloses measurement of intracellular ROS, identification of mtDNA mutations as a diagnostic tool for RTS and treatment with ascorbic acid for scavenging ROS and as treatment for RTS.</p>
申请公布号 EP2398922(B1) 申请公布日期 2015.04.29
申请号 EP20100793297 申请日期 2010.11.08
申请人 NATIONAL INSTITUTE OF IMMUNOLOGY 发明人 SENGUPTA, SAGAR
分类号 C12Q1/68;G01N33/573 主分类号 C12Q1/68
代理机构 代理人
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