Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay

In conclusion, we developed a mammalian cell-based assay in which NCC activity assessment together with a profiling of mutated protein processing aid our understanding of the pathogenic mechanism of the NCC mutations.

Source: AJP: Renal Physiology - November 30, 2016 Category: Urology & Nephrology Authors: Valdez-Flores, M. A., Vargas-Poussou, R., Verkaart, S., Tutakhel, O. A. Z., Valdez-Ortiz, A., Blanchard, A., Treard, C., Hoenderop, J. G. J., Bindels, R. J. M., Jelen, S. Tags: CALL FOR PAPERS Source Type: research