Ontology highlight
ABSTRACT:
SUBMITTER: Reichold M
PROVIDER: S-EPMC2922599 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Reichold Markus M Zdebik Anselm A AA Lieberer Evelyn E Rapedius Markus M Schmidt Katharina K Bandulik Sascha S Sterner Christina C Tegtmeier Ines I Penton David D Baukrowitz Thomas T Hulton Sally-Anne SA Witzgall Ralph R Ben-Zeev Bruria B Howie Alexander J AJ Kleta Robert R Bockenhauer Detlef D Warth Richard R
Proceedings of the National Academy of Sciences of the United States of America 20100722 32
Mutations of the KCNJ10 (Kir4.1) K(+) channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy (EAST) syndrome. We investigated the localization of KCNJ10 and the homologous KCNJ16 in kidney and the functional consequences of KCNJ10 mutations found in our patients with EAST syndrome. Kcnj10 and Kcnj16 were found in the basolateral membrane of mouse distal convoluted tubules, connecting tubules, and cortical collecting ducts. In the hum ...[more]