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 the mutated protein processing aids to our understanding of the pathogenic mechanism of the NCC mutations.
PMID: 27582097 [PubMed - as supplied by publisher]

Source: Am J Physiol Renal P... - August 30, 2016 Category: Urology & Nephrology Authors: Valdez-Flores MA, Vargas-Poussou R, Verkaart S, Tutakhel OA, Valdez-Ortiz A, Blanchard A, Treard C, Hoenderop JG, Bindels RJ, Jeleń S Tags: Am J Physiol Renal Physiol Source Type: research