Ontology highlight
ABSTRACT:
SUBMITTER: McCormick JA
PROVIDER: S-EPMC4347254 | biostudies-other | 2014 Nov
REPOSITORIES: biostudies-other
McCormick James A JA Yang Chao-Ling CL Zhang Chong C Davidge Brittney B Blankenstein Katharina I KI Terker Andrew S AS Yarbrough Bethzaida B Meermeier Nicholas P NP Park Hae J HJ McCully Belinda B West Mark M Borschewski Aljona A Himmerkus Nina N Bleich Markus M Bachmann Sebastian S Mutig Kerim K Argaiz Eduardo R ER Gamba Gerardo G Singer Jeffrey D JD Ellison David H DH
The Journal of clinical investigation 20140924 11
Familial hyperkalemic hypertension (FHHt) is a monogenic disease resulting from mutations in genes encoding WNK kinases, the ubiquitin scaffold protein cullin 3 (CUL3), or the substrate adaptor kelch-like 3 (KLHL3). Disease-associated CUL3 mutations abrogate WNK kinase degradation in cells, but it is not clear how mutant forms of CUL3 promote WNK stability. Here, we demonstrated that an FHHt-causing CUL3 mutant (CUL3 Δ403-459) not only retains the ability to bind and ubiquitylate WNK kinases and ...[more]