Haploinsufficiency as a foreground pathomechanism of poirer-bienvenu syndrome and novel insights underlying the phenotypic continuum of csnk2b-associated disorders

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CSNK2B Missense Mutant Results in an Increased CK2beta Proteolysis Since the authors found that in CSNK2B mutant-overexpressing cells, the CK2beta proteins Since the authors found that in CSNK2B mutant-overexpressing cells,CK2beta the CK2beta were diminished, the authors investigated the molecular mechanism underlying mutantproteins were diminished, the authors investigated the molecular mechanism underlying CK2beta mutant instability. The authors examined whether the reduction in CK2beta proteins was the result of degradation by treating HEK293 cells overexpressing the CSNK2B wild_type and mutants, either with the proteasome inhibitor MG132, which effectively blocked the proteolytic activity of . . .

 



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