Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyp...
Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyperkalaemia
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3
Δ403–459
) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin‐RING‐ubiquitin‐ligase complexes. Bound to KLHL3, CUL3‐RBX1 ubiquitylates WNK...
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Full title
Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyperkalaemia
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TN_cdi_doaj_primary_oai_doaj_org_article_b8eca7c013e14608b210eecae1e9004c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b8eca7c013e14608b210eecae1e9004c
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.15252/emmm.201505444
