Autor: Alicia N Campbell
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Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L syndrome
The mediator kinase module (MKM) coordinates transcriptional programs regulating cellular metabolism, stress responses, and differentiation. Heterozygous variants of MED13L, a core MKM component, cause a neurodevelopmental disorder characterized by variable intellectual disability, developmental delay, hypotonia and motor impairment, and congenital anomalies. However, the molecular basis underlying this clinical heterogeneity is poorly defined. Previously, we identified…