Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia

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....

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Detalles Bibliográficos
Autores principales: Schumacher, Frances-Rose, Siew, Keith, Zhang, Jinwei, Johnson, Clare, Wood, Nicola, Cleary, Sarah E, Al Maskari, Raya S, Ferryman, James T, Hardege, Iris, Figg, Nichola L, Enchev, Radoslav, Knebel, Axel, O’Shaughnessy, Kevin M, Kurz, Thimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604684/
https://www.ncbi.nlm.nih.gov/pubmed/26286618
http://dx.doi.org/10.15252/emmm.201505444

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