What is it about?
We established and analyzed Klhl3M131V/+ KI mice, and elucidated the fundamental pathogenesis of mutant KLHL3 BTB domain-induced pseudohypoaldosteronism type II (PHAII). Klhl3M131V/+ KI mice featured a typical phenotype of PHAII via a defective BTB domain impaired binding to Cul3 with consequently increased WNK1/4 levels.
Featured Image
Why is it important?
The KLHL3 mutations contributed to the most common causative genes in patients with PHAII, but the molecular mechanism of PHAII–causing mutations in BTB domain of KLHL3 have not been investigated in vivo.
Perspectives
Better understanding of the in vivo interaction between KLHL3 BTB domain and Cul3 might contribute to the development of novel antihypertensive therapeutics and the regulation of iron homeostasis in human PHAII.
Chien-Ming Lin
Read the Original
This page is a summary of: Generation and analysis of a mouse model of pseudohypoaldosteronism type II caused by KLHL3 mutation in BTB domain, The FASEB Journal, January 2019, Federation of American Societies For Experimental Biology (FASEB),
DOI: 10.1096/fj.201801023r.
You can read the full text:
Resources
Contributors
The following have contributed to this page
