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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动因捆绑

Muhaned S Mohamed, Eric Klann

    bioRxiv : the preprint server for biology
    |June 19, 2023
    PubMed
    概括

    在真核延长因子1a2 (eEF1A2) 中的突变会损害蛋白质合成和神经元功能. 这些eEF1A2突变破坏了actin细胞骨架,导致神经发育障碍,如自闭症和.

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