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Updated: Jan 18, 2026

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通过BWCFF相关的β-actin G74S突变破坏SETD3介导的histidine-73甲基化

Anja Marquardt1,2, Marcus S Münchhoff1, Jacqueline Krohn1,2

  • 1Institute for Biophysical Chemistry, Fritz-Hartmann-Centre for Medical Research, Hannover Medical School, Germany.

FEBS letters
|June 10, 2025
PubMed
概括

在β-actin (β-actin) 中的G74S突变破坏了SETD3介导的甲基化,这是一个关键的修改. 这一发现将细胞骨行为因障碍与改变的甲基化联系起来,可能揭示巴拉茨尔-温特脑前面综合征 (BWCFF) 的治疗标.

关键词:
巴拉特塞尔冬季大脑面对面综合征这就是SETD3D3的意义.行动性病变 (actinopathy) 是一种行动性病变.希斯提丁甲基化 希斯提丁甲基化这是一种β-actin.

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