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Updated: Jul 6, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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潜在的X关联智力障碍的USP27X变体通过不同的机制破坏蛋白质功能

Intisar Koch1, Maya Slovik2,3, Yuling Zhang4

  • 1Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.

Life science alliance
|January 5, 2024
PubMed
概括

与X相关的智力障碍疾病105 (XLID105) 是由USP27X基因变异引起的. 这项研究扩大了患者队列,并揭示了这些变体如何破坏USP27X蛋白功能,影响神经发育.

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