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Updated: Jul 24, 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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在CUL3中功能丧失的变体会导致综合征性神经发育障碍

Patrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh

    medRxiv : the preprint server for health sciences
    |July 3, 2023
    PubMed
    概括

    新的研究确定了库林-3 (CUL3) 变体是神经发育障碍 (NDD) 的原因. 功能丧失的变种会损害蛋白质的稳定性,导致智力障碍和自闭症特征.

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