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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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聋失明综合征是基于ATF6破坏未折叠蛋白质反应的结果

Yuvraj Joshi, Jeffrey N Savas

    The Journal of clinical investigation
    |February 3, 2025
    PubMed
    概括

    在ATF6中发生的突变与神经感官听力损失 (SNHL) 有关. 这项研究发现ATF6对耳毛细胞功能至关重要,其缺乏会导致ER压力和听力损伤.

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