Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a Novel NR0B1 Mutation.
Ichiro AbeTomoko TanakaKenji OheHideyuki FujiiMai NagataKentaro OchiYuki SendaKaori TakeshitaMidori KogaTadachika KudoMunechika EnjojiToshihiko YanaseKunihisa KobayashiPublished in: Journal of the Endocrine Society (2022)
The specific reduction of NR5A1 phosphorylation by a CLK1/4 inhibitor may alleviate developmental defects in patients with NR0B1 mutations.