Articles with "nkcc2" as a keyword



Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms232112761

Abstract: Mutations in the apical Na-K-2Cl co-transporter, NKCC2, cause type I Bartter syndrome (BS1), a life-threatening kidney disease. We have previously demonstrated that the BS1 variant Y998X, which deprives NKCC2 from its highly conserved dileucine-like motifs,… read more here.

Keywords: motifs carboxyl; diacidic motifs; nkcc2; carboxyl terminus ... See more keywords