Article
Voltage-dependent gating underlies loss of ENaC function in Pseudohypoaldosteronism type 1.
Biophysical journal - 20 Apr 2011
Kucher Volodymyr, Boiko Nina, Pochynyuk Oleh, Stockand James D
Abstract excerpt
Here we explore the mechanism and associated structure-function implications of loss of function for epithelial Na(+) channel (ENaC) containing a pseudohypoaldosteronism type 1 (PHA-1)-causing missense point mutation. As expected, human ENaC that contained subunits harboring PHA-1-causing substitutions within an absolutely conserved, cytosolic Gly residue (e.g., βG37S) had significantly less activity....
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