Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

@article{Janssen2009DiseasecausingDO,
  title={Disease-causing dysfunctions of barttin in Bartter syndrome type IV.},
  author={Audrey G H Janssen and Ute Scholl and Constanze Domeyer and Doreen Nothmann and Ariane Leinenweber and Christoph Fahlke},
  journal={Journal of the American Society of Nephrology : JASN},
  year={2009},
  volume={20 1},
  pages={
          145-53
        }
}
Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural deafness. The causal gene, BSND, encodes barttin, an accessory subunit of chloride channels located in the kidney and inner ear. Barttin modulates the stability, cell surface localization, and function of ClC-K channels; distinct mutations cause phenotypes of varying severity. For definition of the molecular basis of this diversity, the functional consequences of six disease… CONTINUE READING

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