Article

Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of <i>MED13L</i> Syndrome

2026-06-04

Abstract excerpt

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, neuromuscular dysfunction, and congenital anomalies. However, the molecular basis underlying this clinical hete...

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Literature Corpus work: bbd19196-2d7a-5cb6-bd73-e774e84ce91d
DOI: 10.64898/2026.06.01.729270

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