[HTML][HTML] Endoplasmic reticulum–associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome

BM O'Donnell, TD Mackie, AR Subramanya… - Journal of Biological …, 2017 - ASBMB
Type II Bartter syndrome is caused by mutations in the renal outer medullary potassium
(ROMK) channel, but the molecular mechanisms underlying this disease are poorly defined.
To rapidly screen for ROMK function, we developed a yeast expression system and
discovered that yeast cells lacking endogenous potassium channels could be rescued by
WT ROMK but not by ROMK proteins containing any one of four Bartter mutations. We also
found that the mutant proteins were significantly less stable than WT ROMK. However, their …