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Aip1p Dynamics Are Altered by the R256H Mutation in Actin
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与自闭症和相关的EEF1A2突变导致翻译功能障碍和改变的actin捆绑

Muhaned S Mohamed1,2, Eric Klann1,2

  • 1Center for Neural Science, New York University, New York, NY 10003.

Proceedings of the National Academy of Sciences of the United States of America
|September 11, 2023
PubMed
概括

核细胞延长因子1a2 (eEF1A2) 的突变会损害蛋白质合成和神经元发育,导致神经系统疾病. 这些eEF1A2突变破坏了tRNA结合和actin细胞骨架,导致神经元中的功能有毒增长.

关键词:
自闭症自闭症是什么是一种.神经发育的神经发育蛋白质合成 蛋白质合成翻译翻译翻译翻译翻译翻译

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