Nuclear export of L-periaxin, mediated by its nuclear export signalin the PDZ domain

来源 :中国生物化学与分子生物学会第十一次会员代表大会暨2014年全国学术会议 | 被引量 : 0次 | 上传用户:gao_zhenguo
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Over the last 15 years, a number of genetic loci and genes for Charcot-Marie-Tooth(CMT)disease have been identified.CMT patients can be categorized into two types, demyelinationand axonal loss.Charcot-Marie-Tooth type 4F neuropathy(CMT4F) is an autosomalrecessive demyelinating caused by mutations in the periaxin gene(PRX) mapped on 19q13.So far, 18 different frameshift or non-sense PRX mutations were found to cause autosomalrecessive early-onset demyelinating neuropathy, which develop in the severe demyelinatingwith slow or no progression.
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