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Updated: Jun 13, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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在BICD2的载荷结合域中,与主导脊髓肌肉缩相关的突变导致互动组的改变和dynein过活性

Hannah Neiswender1, Rajalakshmi Veeranan-Karmegam1, Jessica E Pride1

  • 1Cellular Biology and Anatomy, Medical College of Georgia, Augusta University, 1460 Laney Walker Blvd, Augusta, GA, 30912, USA.

bioRxiv : the preprint server for biology
|June 4, 2025
PubMed
概括

双尾D2 (BICD2) 中的突变通过改变细胞货物运输,导致以下肢占主导地位 (SMALED2) 的脊柱肌肉缩. 这些BICD2突变导致dynein运动过活和蛋白相互作用的变化,导致疾病.

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