Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Neuron. 2017 Jan 18;93(2):249-251. doi: 10.1016/j.neuron.2017.01.001.
Sellier et al. (2017) show that translation of expanded CGG repeats in fragile X-associated tremor/ataxia syndrome is initiated at an upstream ACG near-cognate start codon. The resulting polyglycine-containing protein, but not repeat RNA, is pathogenic by disrupting the nuclear lamina.
塞利尔等人（2017 年）表明，脆性 X 相关震颤/共济失调综合征中扩展的 CGG 重复的翻译是从上游的 ACG 近同源起始密码子开始的。由此产生的多聚甘氨酸蛋白，而不是重复 RNA，通过破坏核纤层而具有致病性。
