Abstract
Mutations in the electrogenic Cl(-)/H(+) exchanger ClC-5 gene CLCN5 are frequently associated with Dent disease, an X-linked recessive disorder affecting the proximal tubules. Here, we investigate the consequences in Xenopus laevis oocytes and in HEK293 cells of nine previously reported, pathogenic, missense mutations of ClC-5, most of them which are...
Description
Keywords
ERL 7226 Keck , CNRS , [SDV]Life Sciences [q-bio] , Nadia , Molecular Sequence Data , ERL 7226 Lourdel , Chloride/proton exchanger , ClC-5 , Kamel , [SDV.BC]Life Sciences [q-bio]/Cellular Biology , Processing , ERL 7226 L'Hoste , Mathilde , Kidney Tubules, Proximal , Xenopus laevis , Chloride Channels , Jacques , Stéphane , Animals , Humans , Amino Acid Sequence , Sébastien , Cells, Cultured , UPMC Univ Paris 06 , INSERM , ERL 7226 Pennaforte , Dent Disease , Teddy , Mathieu , Life Sciences , ERL 7226 Teulon , Complete List of Authors: Grand , David , Thomas , HEK293 Cells , ERL 7226 Key Words: Dent's disease , Mutation , Oocytes , ERL 7226 Defontaine , CLCN5 , UMR_S 872 , ERL 7226 Mordasini , Sequence Alignment , ERL 7226 Laghmani , ERL 7226 Genete