Genetics in medicine : official journal of the American College of Medical GeneticsHumansAnimalsZebrafishNeurodevelopmental DisordersDisease Models
KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.
Tehmeena Akhter, Zubair M Ahmed, Yaping Ji, Axel Schmidt, Meron Azage, Maria Palomares, Kirsten Cremer, Hartmut Engels, Jennifer O Murphy, Sophia Peters, Elisabeth Mangold, M L Á Gomez-Cano, Rodney J Taylor, Sheikh Riazuddin, Saima Riazuddin
Published: 202610.1016/j.gim.2025.101625
Abstract
PURPOSE: Neurodevelopmental disorders (NDDs) are characterized by limitations in brain development. This study aims to determine the genetic causes of NDD in humans. METHODS: Exome sequencing was used to detect genetic variants of KLHL13, which encod…
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