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Updated: Jul 27, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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一种与神经发育障碍相关的HNRNPH2的新卡里奥菲林-β2结合PY-NLS表位

Abner Gonzalez1, Hong Joo Kim2, Brian D Freibaum2

  • 1Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

Structure (London, England : 1993)
|June 6, 2023
PubMed
概括

核进口信号HNRNPH2中的突变通过破坏蛋白质运输导致X相关的神经发育障碍. 结构分析揭示了这些突变如何破坏卡里奥菲林-β2结合,导致细胞质积累.

关键词:
在 HNRNPH1 的情况下,HNRNPH1在 HNRNPH2 的情况下,HNRNPH2卡里奥菲林是什么意思 卡里奥菲林是什么意思神经发育障碍是一种神经发育障碍.进口的核电设备在 PY-NLS 中.运输在-1中的运输在 -2 中的运输在 hnRNP 中.在进口中,进口量很大.

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