微卫星扩展疾病：翻译中发现重复毒性。
Microsatellite Expansion Diseases: Repeat Toxicity Found in Translation.
机构信息
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.
出版信息
Neuron. 2017 Jan 18;93(2):249-251. doi: 10.1016/j.neuron.2017.01.001.
PMID:28103472
Abstract
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.
摘要
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。
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