Bandulik, Sascha and Schmidt, Katharina and Bockenhauer, Detlef and Zdebik, Anselm A. and Humberg, Evelyn and Kleta, Robert and Warth, Richard and Reichold, Markus (2011) The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 461 (4). pp. 423-435. ISSN 0031-6768
Full text not available from this repository. (Request a copy)Abstract
Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal saltwasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the molecular aspects of the physiology and pathophysiology of KCNJ10 in the distal convoluted tubule.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DISTAL CONVOLUTED TUBULE; NA+,K+-ATPASE GAMMA-SUBUNIT; CALCIUM-SENSING RECEPTOR; ROMK POTASSIUM CHANNEL; CENTRAL-NERVOUS-SYSTEM; RENAL MAGNESIUM LOSS; BARTTERS-SYNDROME; SECONDARY HYPOCALCEMIA; SENSORINEURAL DEAFNESS; BASOLATERAL MEMBRANE; Kir4.1; Salt-losing syndrome; Distal convoluted tubule; Channelopathy; Potassium channel; Kidney; K channel; Transport; Epilepsy |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Biology, Preclinical Medicine > Institut für Physiologie > Prof. Dr. Richard Warth |
| Depositing User: | Petra Gürster |
| Date Deposited: | 29 Apr 2020 10:00 |
| Last Modified: | 29 Apr 2020 10:00 |
| URI: | https://pred.uni-regensburg.de/id/eprint/21052 |
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