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Items: 30

1.

Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease).

Wager K, Zdebik AA, Fu S, Cooper JD, Harvey RJ, Russell C.

PLoS One. 2016 Jun 21;11(6):e0157365. doi: 10.1371/journal.pone.0157365. eCollection 2016.

2.

Magnesium: The Disregarded Cation.

Walsh SB, Zdebik AA, Unwin RJ.

Mayo Clin Proc. 2015 Aug;90(8):993-5. doi: 10.1016/j.mayocp.2015.06.011. No abstract available.

PMID:
26250724
3.

Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings.

Zdebik AA, Mahmood F, Stanescu HC, Kleta R, Bockenhauer D, Russell C.

PLoS One. 2013 Nov 14;8(11):e79765. doi: 10.1371/journal.pone.0079765. eCollection 2013.

4.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.

Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2.

5.

Renal intercalated cells are rather energized by a proton than a sodium pump.

Chambrey R, Kurth I, Peti-Peterdi J, Houillier P, Purkerson JM, Leviel F, Hentschke M, Zdebik AA, Schwartz GJ, Hübner CA, Eladari D.

Proc Natl Acad Sci U S A. 2013 May 7;110(19):7928-33. doi: 10.1073/pnas.1221496110. Epub 2013 Apr 22.

6.

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.

Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C.

Dis Model Mech. 2013 May;6(3):652-60. doi: 10.1242/dmm.009480. Epub 2013 Feb 14.

7.

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1204-9. doi: 10.1136/jnnp-2012-303055. Epub 2012 Jul 31.

PMID:
22851605
8.

Beyond ion transport: KCC2 makes cells walk and talk.

Zdebik AA.

J Physiol. 2011 Dec 15;589(Pt 24):5903. doi: 10.1113/jphysiol.2011.221754. No abstract available.

9.

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2011;119(3):p40-8. doi: 10.1159/000330250. Epub 2011 Aug 18.

PMID:
21849804
10.

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.

Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D.

J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7.

11.

NT5E mutations and arterial calcifications.

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M.

N Engl J Med. 2011 Feb 3;364(5):432-42. doi: 10.1056/NEJMoa0912923.

12.

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

Bandulik S, Schmidt K, Bockenhauer D, Zdebik AA, Humberg E, Kleta R, Warth R, Reichold M.

Pflugers Arch. 2011 Apr;461(4):423-35. doi: 10.1007/s00424-010-0915-0. Epub 2011 Jan 11. Review.

PMID:
21221631
13.

ClC-3--a granular anion transporter involved in insulin secretion?

Jentsch TJ, Maritzen T, Keating DJ, Zdebik AA, Thévenod F.

Cell Metab. 2010 Oct 6;12(4):307-308. doi: 10.1016/j.cmet.2010.08.014. No abstract available.

14.

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.

Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R.

Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14490-5. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22.

15.

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

Landouré G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, Shi Y, Taye AA, Kong L, Munns CH, Choo SS, Phelps CB, Paudel R, Houlden H, Ludlow CL, Caterina MJ, Gaudet R, Kleta R, Fischbeck KH, Sumner CJ.

Nat Genet. 2010 Feb;42(2):170-4. doi: 10.1038/ng.512. Epub 2009 Dec 27.

16.

Potassium ion movement in the inner ear: insights from genetic disease and mouse models.

Zdebik AA, Wangemann P, Jentsch TJ.

Physiology (Bethesda). 2009 Oct;24:307-16. doi: 10.1152/physiol.00018.2009. Review.

17.

Statins and fibrate target ClC-1 - from side effects to CLC pharmacology.

Zdebik AA.

Br J Pharmacol. 2009 Apr;156(8):1204-5. doi: 10.1111/j.1476-5381.2008.00083.x.

18.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.

N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

19.

Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.

Bergsdorf EY, Zdebik AA, Jentsch TJ.

J Biol Chem. 2009 Apr 24;284(17):11184-93. doi: 10.1074/jbc.M901170200. Epub 2009 Mar 4.

20.

Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue.

Maritzen T, Keating DJ, Neagoe I, Zdebik AA, Jentsch TJ.

J Neurosci. 2008 Oct 15;28(42):10587-98. doi: 10.1523/JNEUROSCI.3750-08.2008.

21.

Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.

Rickheit G, Maier H, Strenzke N, Andreescu CE, De Zeeuw CI, Muenscher A, Zdebik AA, Jentsch TJ.

EMBO J. 2008 Nov 5;27(21):2907-17. doi: 10.1038/emboj.2008.203. Epub 2008 Oct 2.

22.

Determinants of anion-proton coupling in mammalian endosomal CLC proteins.

Zdebik AA, Zifarelli G, Bergsdorf EY, Soliani P, Scheel O, Jentsch TJ, Pusch M.

J Biol Chem. 2008 Feb 15;283(7):4219-27. Epub 2007 Dec 6.

23.

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

Poët M, Kornak U, Schweizer M, Zdebik AA, Scheel O, Hoelter S, Wurst W, Schmitt A, Fuhrmann JC, Planells-Cases R, Mole SE, Hübner CA, Jentsch TJ.

Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13854-9. Epub 2006 Sep 1.

24.

Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.

Jentsch TJ, Maritzen T, Zdebik AA.

J Clin Invest. 2005 Aug;115(8):2039-46. Review.

25.

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.

Scheel O, Zdebik AA, Lourdel S, Jentsch TJ.

Nature. 2005 Jul 21;436(7049):424-7.

PMID:
16034422
26.

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.

Jentsch TJ, Poët M, Fuhrmann JC, Zdebik AA.

Annu Rev Physiol. 2005;67:779-807. Review.

PMID:
15709978
27.

Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models.

Zdebik AA, Cuffe JE, Bertog M, Korbmacher C, Jentsch TJ.

J Biol Chem. 2004 May 21;279(21):22276-83. Epub 2004 Mar 7.

28.

Molecular structure and physiological function of chloride channels.

Jentsch TJ, Stein V, Weinreich F, Zdebik AA.

Physiol Rev. 2002 Apr;82(2):503-68. Review. Erratum in: Physiol Rev. 2003 Apr;83(2):following table of contents.

29.

Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.

Bösl MR, Stein V, Hübner C, Zdebik AA, Jordt SE, Mukhopadhyay AK, Davidoff MS, Holstein AF, Jentsch TJ.

EMBO J. 2001 Mar 15;20(6):1289-99.

30.

Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.

Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bösl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ.

Neuron. 2001 Jan;29(1):185-96.

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