Article

DDX3X syndrome mutations lock DDX3X-RNA conformational states to drive persistent pathological condensation and neuronal death

2026-01-30

Abstract excerpt

<h4>ABSTRACT</h4> DDX3X is a highly conserved RNA helicase associated with RNA metabolism, translation initiation, and deciding cell fate choices. Spontaneous mutations in DDX3X cause a rare genetic human disorder called DDX3X syndrome, showing a spectrum of neurodevelopmental and intellectual abnormalities. How missense mutations in DDX3X lead to aberrant cellular functions and pathological consequences is uncle...

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Literature Corpus work: 6729bea5-1456-5077-a0fa-db1d710788d8
DOI: 10.64898/2026.01.29.702492

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