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UBE3AQ588E功能获得性突变在小鼠中引发类似天使综合征的神经发育表型 ...
在生命科学的神秘领域中,基因与疾病的关系一直是科研人员探索的重点。UBE3A 基因编码一种 HECT 结构域 E3 泛素连接酶(E3 ubiquitin ligase),它在神经元中通过泛素 - 蛋白酶体途径(ubiquitin–proteasome pathway),对底物蛋白进行泛素化修饰并促使其降解。这个基因 ...
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