Literature DB >> 21221631

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Sascha Bandulik1, Katharina Schmidt, Detlef Bockenhauer, Anselm A Zdebik, Evelyn Humberg, Robert Kleta, Richard Warth, Markus Reichold.   

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 salt-wasting 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.

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Year:  2011        PMID： 21221631     DOI： 10.1007/s00424-010-0915-0

Source DB:  PubMed          Journal:  Pflugers Arch        ISSN： 0031-6768            Impact factor:   3.657


  99 in total

1.  Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.

Authors:  D B Simon; R S Bindra; T A Mansfield; C Nelson-Williams; E Mendonca; R Stone; S Schurman; A Nayir; H Alpay; A Bakkaloglu; J Rodriguez-Soriano; J M Morales; S A Sanjad; C M Taylor; D Pilz; A Brem; H Trachtman; W Griswold; G A Richard; E John; R P Lifton
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

2.  Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL.

Authors:  W H Wang; M Lu; S C Hebert
Journal:  Am J Physiol       Date:  1996-07

3.  Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia.

Authors:  Tom Nijenhuis; Volker Vallon; Annemiete W C M van der Kemp; Johannes Loffing; Joost G J Hoenderop; René J M Bindels
Journal:  J Clin Invest       Date:  2005-05-12       Impact factor: 14.808

4.  Effect of nerve impulses on the membrane potential of glial cells in the central nervous system of amphibia.

Authors:  R K Orkand; J G Nicholls; S W Kuffler
Journal:  J Neurophysiol       Date:  1966-07       Impact factor: 2.714

5.  Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.

Authors:  Nora Rozengurt; Ivan Lopez; Chi-Sung Chiu; Paulo Kofuji; Henry A Lester; Clemens Neusch
Journal:  Hear Res       Date:  2003-03       Impact factor: 3.208

6.  Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome.

Authors:  Johannes Loffing; Volker Vallon; Dominique Loffing-Cueni; Fintan Aregger; Kerstin Richter; Laurence Pietri; May Bloch-Faure; Joost G J Hoenderop; Gary E Shull; Pierre Meneton; Brigitte Kaissling
Journal:  J Am Soc Nephrol       Date:  2004-09       Impact factor: 10.121

7.  Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

Authors:  Vladimir Chubanov; Siegfried Waldegger; Michael Mederos y Schnitzler; Helga Vitzthum; Martin C Sassen; Hannsjörg W Seyberth; Martin Konrad; Thomas Gudermann
Journal:  Proc Natl Acad Sci U S A       Date:  2004-02-19       Impact factor: 11.205

8.  Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

Authors:  Ute I Scholl; Murim Choi; Tiewen Liu; Vincent T Ramaekers; Martin G Häusler; Joanne Grimmer; Sheldon W Tobe; Anita Farhi; Carol Nelson-Williams; Richard P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-16       Impact factor: 11.205

Review 9.  Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit.

Authors:  Iwan C Meij; Jan B Koenderink; Joke C De Jong; Jan Joep H H M De Pont; Leo A H Monnens; Lambert P W J Van Den Heuvel; Nine V A M Knoers
Journal:  Ann N Y Acad Sci       Date:  2003-04       Impact factor: 5.691

10.  Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.

Authors:  Rosa Vargas-Poussou; Chunfa Huang; Philippe Hulin; Pascal Houillier; Xavier Jeunemaître; Michel Paillard; Gabrielle Planelles; Michèle Déchaux; R Tyler Miller; Corinne Antignac
Journal:  J Am Soc Nephrol       Date:  2002-09       Impact factor: 10.121
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  35 in total

1.  Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.

Authors:  Marc Paulais; May Bloch-Faure; Nicolas Picard; Thibaut Jacques; Suresh Krishna Ramakrishnan; Mathilde Keck; Fabien Sohet; Dominique Eladari; Pascal Houillier; Stéphane Lourdel; Jacques Teulon; Stephen J Tucker
Journal:  Proc Natl Acad Sci U S A       Date:  2011-06-01       Impact factor: 11.205

2.  Vasopressin-induced stimulation of the Na(+)-activated K(+) channels is responsible for maintaining the basolateral K(+) conductance of the thick ascending limb (TAL) in EAST/SeSAME syndrome.

Authors:  Lili Fan; Xiaoyan Wang; Dandan Zhang; Xinpeng Duan; Chunlei Zhao; Mingxue Zu; Xinxin Meng; Chengbiao Zhang; Xiao-Tong Su; Ming-Xiao Wang; Wen-Hui Wang; Ruimin Gu
Journal:  Biochim Biophys Acta       Date:  2015-08-28

3.  KCNJ10 (Kir4.1) is expressed in the basolateral membrane of the cortical thick ascending limb.

Authors:  Chengbiao Zhang; Lijun Wang; Xiao-Tong Su; Dao-Hong Lin; Wen-Hui Wang
Journal:  Am J Physiol Renal Physiol       Date:  2015-04-01

Review 4.  Clinical salt deficits.

Authors:  Friedrich C Luft
Journal:  Pflugers Arch       Date:  2014-12-05       Impact factor: 3.657

Review 5.  Molecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.

Authors:  Francisco V Sepúlveda; L Pablo Cid; Jacques Teulon; María Isabel Niemeyer
Journal:  Physiol Rev       Date:  2015-01       Impact factor: 37.312

Review 6.  Distal convoluted tubule.

Authors:  James A McCormick; David H Ellison
Journal:  Compr Physiol       Date:  2015-01       Impact factor: 9.090

Review 7.  Dietary potassium and the renal control of salt balance and blood pressure.

Authors:  David Penton; Jan Czogalla; Johannes Loffing
Journal:  Pflugers Arch       Date:  2015-01-06       Impact factor: 3.657

8.  Of dogs and men.

Authors:  Detlef Bockenhauer; Robert Kleta
Journal:  Eur J Hum Genet       Date:  2017-02       Impact factor: 4.246

9.  Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride.

Authors:  Andrew S Terker; Chong Zhang; James A McCormick; Rebecca A Lazelle; Chengbiao Zhang; Nicholas P Meermeier; Dominic A Siler; Hae J Park; Yi Fu; David M Cohen; Alan M Weinstein; Wen-Hui Wang; Chao-Ling Yang; David H Ellison
Journal:  Cell Metab       Date:  2015-01-06       Impact factor: 27.287

10.  SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Authors:  Ute I Scholl; Haatal B Dave; Ming Lu; Anita Farhi; Carol Nelson-Williams; James A Listman; Richard P Lifton
Journal:  Pediatr Nephrol       Date:  2012-08-21       Impact factor: 3.714
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