C9orf72 repeats compromise nucleocytoplasmic transport

被引：12

作者：

van Blitterswijk, Marka ^{[1
]}

Rademakers, Rosa ^{[1
]}

机构：

[1] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

NATURE REVIEWS NEUROLOGY | 2015年 / 11卷 / 12期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; HEXANUCLEOTIDE REPEAT; EXPANSION; TOXICITY; FTD; ALS;

D O I：

10.1038/nrneurol.2015.219

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The molecular mechanisms of neurodegeneration due to a repeat expansion in C9orf72, the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis, are unknown. Three reports now link compromised nucleocytoplasmic transport to disease pathogenesis. Whether RNA structures or dipeptide repeat proteins are most toxic in humans remains open to question.

引用

页码：670 / 672

页数：2

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