Connexin32启动子P2突变是周围神经功能障碍的机制

Connexin32启动子P2突变是周围神经功能障碍的机制Houlden H.;Girard M.;Cockerell C.;黄卫东
【期刊名称】《世界核心医学期刊文摘：神经病学分册》
【年(卷),期】2005(000)004
【摘要】We identified a large Charcot- Marie- Tooth disease family with a novel mutation in the Connexin 32 (Cx32) P2 promoter region at position - 526bp. This mutation was in a highly conserved SOX10 binding site. Functional studies were conducted on the Cx32 promoter that showed that this mutation reduced the activity of the Cx32 promoter and the affinity for SOX10 binding. These data suggest that interaction between the Cx32 P2 promoter, SOX10, and EGR2 highlight a mechanism of peripheral nerve dysfunction.
【总页数】1页(P13-13)
【作者】Houlden H.;Girard M.;Cockerell C.;黄卫东
【作者单位】National Hospital for Neurology;Queen Square;London;WC1N 3BG;United Kingdom Dr
【正文语种】中文
【中图分类】R745
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