The DAXX tax: C9orf72 DNA repeat expansions drive gain- and loss-of-function pathology in c9FTD/ALS.
The DAXX tax: C9orf72 DNA repeat expansions drive gain- and loss-of-function pathology in c9FTD/ALS.
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DAXX 税：C9orf72 DNA 重复扩增导致 c9FTD/ALS 中功能获得和功能丧失的病理学。
DOI：
10.1016/j.neuron.2023.03.028
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发表时间：
2023
期刊：
影响因子：
16.2
通讯作者：
Rossoll,Wilfried
中科院分区：
文献类型：
--
作者：
Liu,Feilin;Rossoll,Wilfried
在这一期的Neuron中，Liu et al.1鉴定DAXX为C9orf72六核苷酸重复扩增DNA结合蛋白，其启动表观遗传修饰和染色质重塑，通过抑制其应激诱导表达和介导功能丧失和毒性获得病理学而导致C9orf72单倍不足。
In this issue ofNeuron, Liu et al.1identify DAXX as aC9orf72hexanucleotide repeat expansion DNA-binding protein that initiates epigenetic modifications and chromatin remodeling, contributing to C9orf72 haploinsufficiency by inhibiting its stress-inducible expression and mediating both loss- and toxic gain-of-function pathology.