A candidate HNRNPU-CHD2 RNA-processing axis in neurodevelopmental disease
Heterozygous loss-of-function variants in HNRNPU, which encodes a nuclear RNA-binding scaffold protein, cause a neurodevelopmental disorder with epilepsy, intellectual disability and brain malformations, but the programs that link HNRNPU dosage to neuronal dysfunction remain poorly defined. We depleted HNRNPU in Human embryonic kidney 293T (HEK293T) cells, profiled gene expression and alternative…
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