Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation
Yining Liu, Mu Yang, Lin Fan, Yunqi He, Erkuan Dai, Min Liu, Lei Jiang, Zhenglin Yang, Shujin Li
Topics & Concepts
UbiquitinFrameshift mutationPhosphorylationProteasomeWnt signaling pathwaySignal transductionCateninCell biologyPathogenesisMutationBiologyBeta-cateninChemistryGeneticsGeneImmunologyWnt/β-catenin signaling in development and cancerUbiquitin and proteasome pathwaysCancer-related gene regulation