A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.
连接蛋白(Cx)形成缝隙连接通道(GJC)和半通道(HC),介导细胞间及胞内外溶质交换。编码Cx32的GJB1基因突变导致X连锁Charcot-Marie-Tooth 1型(CMTX1),目前缺乏有效治疗。施万细胞中Cx32半通道可能通过增强Ca2+信号参与髓鞘形成;p.S85C、p.D178Y、p.F235C等突变可产生渗漏或高活...