Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
Alicia N. Campbell, Kendall N Jung, Steven J. Doyle, Ekaterina Lebayle, Barbara Corneo, Joanna Feng, Christopher L. Ricupero, Jennifer Bain, Randy Strich
The paper identifies mitochondrial dysfunction and cyclin C mislocalization as consistent features of MED13L syndrome, linking them to clinical severity and suggesting potential biomarkers.
Human Genetics and Genomics Advances · Sep 4, 2026Peer-reviewedGenetics