Article
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.
Scientific reports - 27 Jan 2020
Straub Jonas, Gregor Anne, Sauerer Tatjana, Fliedner Anna, Distel Laila, Suchy Christine, Ekici Arif B, Ferrazzi Fulvia, Zweier Christiane
Abstract excerpt
Neurodevelopmental disorders (NDDs) are clinically and genetically extremely heterogeneous with shared phenotypes often associated with genes from the same networks. Mutations in TCF4, MEF2C, UBE3A, ZEB2 or ATRX cause phenotypically overlapping, syndromic forms of NDDs with severe intellectual disability, epilepsy and microcephaly. To characterize potential functional links between these genes/proteins, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
