Functional expression of mutations in the human NaCl cotransporter: evidence for impaired routing mechanisms in Gitelman's syndrome
JC De Jong, WA Van Der Vliet… - Journal of the …, 2002 - journals.lww.com
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by
hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder results
from mutations in the thiazide-sensitive NaCl cotransporter (NCC). To elucidate the
functional implications of mutations associated with this disorder, metolazone-sensitive 22
Na+ uptake, subcellular localization, and glycosidase-sensitive glycosylation of human NCC
(hNCC) were determined in Xenopus laevis oocytes expressing FLAG-tagged wild-type or …
hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder results
from mutations in the thiazide-sensitive NaCl cotransporter (NCC). To elucidate the
functional implications of mutations associated with this disorder, metolazone-sensitive 22
Na+ uptake, subcellular localization, and glycosidase-sensitive glycosylation of human NCC
(hNCC) were determined in Xenopus laevis oocytes expressing FLAG-tagged wild-type or …
