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Updated: Jan 8, 2026

An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
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An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants

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失去CTLH成分MAEA会损害DNA修复和复制,并导致发育延迟

Søren H Hough1,2, Satpal S Jhujh3, Samah W Awwad1,2

  • 1Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.

EMBO molecular medicine
|December 19, 2025
PubMed
概括

玛雅是一种全方位素E3酶子单元,对DNA修复和复制应激反应至关重要. 它的变体导致DIADEM,一种神经发育障碍,与受损的同源重组和RAD51加载有关.

关键词:
修复DNA修复DNA的修复复制DNA复制DNA复制DNA复制神经发育障碍 神经发育障碍乌比奎丁是一种存在的药物.

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