Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome
S Pradervand, A Vandewalle, M Bens… - Journal of the …, 2003 - journals.lww.com
The Liddle syndrome is a dominant form of salt-sensitive hypertension resulting from
mutations in the β or γ subunit of ENaC. A previous study established a mouse model
carrying a premature Stop codon corresponding to the R 566stop mutation (L) found in the
original pedigree that recapitulates to a large extent the human disease. This study
investigated the renal Na+ transport in vivo, ex vivo (intact perfused tubules), and in vitro
(primary cultured cortical collecting ducts [CCD]). In vivo, upon 6 to 12 h of salt repletion …
mutations in the β or γ subunit of ENaC. A previous study established a mouse model
carrying a premature Stop codon corresponding to the R 566stop mutation (L) found in the
original pedigree that recapitulates to a large extent the human disease. This study
investigated the renal Na+ transport in vivo, ex vivo (intact perfused tubules), and in vitro
(primary cultured cortical collecting ducts [CCD]). In vivo, upon 6 to 12 h of salt repletion …