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Updated: Jul 11, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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Published on: August 20, 2019

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在WBP4中编码一个spliceosome蛋白的双基因功能丧失变体,导致一个可变的神经发育综合征

Eden Engal1, Kaisa Teele Oja2, Reza Maroofian3

  • 1Department of Biochemistry and Molecular Biology, The Institute for Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel; Department of Military Medicine and "Tzameret," Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

American journal of human genetics
|November 14, 2023
PubMed
概括

功能丧失的WW域结合蛋白4 (WBP4) 变体会导致严重的神经发育障碍. 这项研究确定了WBP4作为一种与结体病变相关的新基因,扩大了我们对遗传大脑异常的理解.

关键词:
在WBP4中,您可以使用WBP4.异常拼接是异常的在mRNA前拼接.这是一种衰退性障碍.拼接一个osomeome.结合体病变是一种结合体病变 (spliceosomopathy).综合性神经发育障碍综合征

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