GeneticsHuman Genetics and Genomics AdvancesPeer-reviewed
Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome
Alicia N. Campbell, Kendall N Jung, Steven J. Doyle…·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.