Article
Heterogeneity in the processing of CLCN5 mutants related to Dent disease.
Human mutation - 1 Apr 2011
Grand Teddy, L'Hoste Sébastien, Mordasini David, Defontaine Nadia, Keck Mathilde, Pennaforte Thomas, Genete Mathieu, Laghmani Kamel, Teulon Jacques, Lourdel Stéphane
Abstract excerpt
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 located in regions forming the subunit interface. Two mutants...
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