New insights into SETBP1 variants reveal mechanisms behind neurodevelopmental disorders

An international research team led by Maggie Wong at the Max Planck Institute for Psycholinguistics (MPI) has discovered that SETBP1 missense variants outside the canonical degron region can disrupt DNA binding, transcriptional regulation, and neuronal differentiation—giving rise to a distinct, clinically heterogeneous neurodevelopmental disorder.

This article was originally published on MedicalXpress.com

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