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Anselm Zdebik

Research Profile

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Régine Chambrey; Moritz Hentschke; Pascal Houillier; Christian A Hübner; Ingo Kurth; Françoise Leviel; Janos Peti-Peterdi; Jeffrey M Purkerson; George J Schwartz; Anselm A Zdebik; Dominique Eladari
Renal intercalated cells are rather energized by a proton than a sodium pump.
Fahad Mahmood; Monika Mozere; Philip L Beales; Detlef Bockenhauer; Robert Kleta; Horia C Stanescu; Jonathan Tobin; Anselm A Zdebik; Claire Russell
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Katherine A Fawcett; Victoria S Burchell; Hadi Manji; Sinead M Murphy; James M Polke; Ros M Quinlivan; Mary M Reilly; Selina Wray; Anselm A Zdebik; Henry Houlden
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

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All Publications

2013: Régine Chambrey; Moritz Hentschke; Pascal Houillier; Christian A Hübner; Ingo Kurth; Françoise Leviel; Janos Peti-Peterdi; Jeffrey M Purkerson; George J Schwartz; Anselm A Zdebik; Dominique Eladari
Renal intercalated cells are rather energized by a proton than a sodium pump.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(19):7928-33.
2013: Fahad Mahmood; Monika Mozere; Philip L Beales; Detlef Bockenhauer; Robert Kleta; Horia C Stanescu; Jonathan Tobin; Anselm A Zdebik; Claire Russell
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
Disease models & mechanisms 2013;6(3):652-60.
2012: Katherine A Fawcett; Victoria S Burchell; Hadi Manji; Sinead M Murphy; James M Polke; Ros M Quinlivan; Mary M Reilly; Selina Wray; Anselm A Zdebik; Henry Houlden
Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.
Journal of neurology, neurosurgery, and psychiatry 2012;83(12):1204-9.
2011: Dorothy A Thompson; Sally Feather; Horia C Stanescu; Bernard Freudenthal; Anselm A Zdebik; Richard Warth; Milos Ognjanovic; Sally A Hulton; Evangeline Wassmer; William G Van't Hoff; Isabelle Russell-Eggitt; Angus Dobbie; Eamonn Sheridan; Robert Kleta; Detlef Bockenhauer
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
The Journal of physiology 2011;589(Pt 7):1681-9.
2011: Sascha Bandulik; Katharina Schmidt; Detlef Bockenhauer; Anselm A Zdebik; Evelyn Humberg; Robert Kleta; Richard Warth; Markus Reichold
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
Pflügers Archiv : European journal of physiology 2011;461(4):423-35.
2011: Cynthia St Hilaire; Shira G Ziegler; Thomas C Markello; Alfredo Brusco; Catherine Groden; Fred Gill; Hannah Carlson-Donohoe; Robert J Lederman; Marcus Y Chen; Dan Yang; Michael P Siegenthaler; Carlo Arduino; Cecilia Mancini; Bernard Freudenthal; Horia C Stanescu; Anselm A Zdebik; R Krishna Chaganti; Robert L Nussbaum; Robert Kleta; William A Gahl; Manfred Boehm
NT5E mutations and arterial calcifications.
The New England journal of medicine 2011;364(5):432-42.
2010: Thomas J Jentsch; Tanja Maritzen; Damien J Keating; Anselm A Zdebik; Frank Thévenod
ClC-3--a granular anion transporter involved in insulin secretion?
Cell metabolism 2010;12(4):307-8; author reply 309-10.
2010: Markus Reichold; Anselm A Zdebik; Evelyn Lieberer; Markus Rapedius; Katharina Schmidt; Sascha Bandulik; Christina Sterner; Ines Tegtmeier; David Penton; Thomas Baukrowitz; Sally-Anne Hulton; Ralph Witzgall; Bruria Ben-Zeev; Alexander J Howie; Robert Kleta; Detlef Bockenhauer; Richard Warth
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(32):14490-5.
2010: Guida Landouré; Anselm A Zdebik; Tara L Martinez; Barrington Burnett; Horia C Stanescu; Hitoshi Inada; Yijun Shi; Addis A Taye; Lingling Kong; Clare H Munns; Shelly S Choo; Christopher Phelps; Reema Paudel; Henry Houlden; Christy L Ludlow; Michael J Caterina; Rachelle Gaudet; Robert Kleta; Kenneth H Fischbeck; CHARLOTTE SUMNER
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
Nature genetics 2010;42(2):170-4.
2009: Anselm A Zdebik; Philine Wangemann; Thomas J Jentsch
Potassium ion movement in the inner ear: insights from genetic disease and mouse models.
Physiology (Bethesda, Md.) 2009;24():307-16.
2009: Detlef Bockenhauer; Sally Feather; Horia C Stanescu; Sascha Bandulik; Anselm A Zdebik; Markus Reichold; Jonathan Tobin; Evelyn Lieberer; Christina Sterner; Guida Landoure; Ruchi Arora; Tony Sirimanna; Dorothy Thompson; J Helen Cross; William G Van't Hoff; Omar Al Masri; Kjell Tullus; Stella Yeung; Yair Anikster; Enriko Klootwijk; Mike Hubank; Michael J Dillon; Dirk Heitzmann; Mauricio Arcos-Burgos; Mark A Knepper; Angus Dobbie; William A Gahl; Richard Warth; Eamonn Sheridan; Robert Kleta
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
The New England journal of medicine 2009;360(19):1960-70.
2009: Eun-Yeong Bergsdorf; Anselm A Zdebik; Thomas J Jentsch
Residues important for nitrate/proton coupling in plant and mammalian CLC transporters.
The Journal of biological chemistry 2009;284(17):11184-93.
2009: Anselm A Zdebik
Statins and fibrate target ClC-1 - from side effects to CLC pharmacology.
British journal of pharmacology 2009;156(8):1204-5.
2008: Gesa Rickheit; Hannes Maier; Nicola Strenzke; Corina E Andreescu; Chris I De Zeeuw; Adrian Muenscher; Anselm A Zdebik; Thomas J Jentsch
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.
The EMBO journal 2008;27(21):2907-17.
2008: Tanja Maritzen; Damien J Keating; Ioana Neagoe; Anselm A Zdebik; Thomas J Jentsch
Role of the vesicular chloride transporter ClC-3 in neuroendocrine tissue.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(42):10587-98.
2008: Anselm A Zdebik; Giovanni Zifarelli; Eun-Yeong Bergsdorf; Paolo Soliani; Olaf Scheel; Thomas J Jentsch; Michael Pusch
Determinants of anion-proton coupling in mammalian endosomal CLC proteins.
The Journal of biological chemistry 2008;283(7):4219-27.
2006: Mallorie Poët; Uwe Kornak; Michaela Schweizer; Anselm A Zdebik; Olaf Scheel; Sabine Hoelter; Wolfgang Wurst; Anja Schmitt; Jens C Fuhrmann; Rosa Planells-Cases; Sara E Mole; Christian A Hübner; Thomas J Jentsch
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(37):13854-9.
2005: Thomas J Jentsch; Tanja Maritzen; Anselm A Zdebik
Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.
The Journal of clinical investigation 2005;115(8):2039-46.
2005: Olaf Scheel; Anselm A Zdebik; Stéphane Lourdel; Thomas J Jentsch
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
Nature 2005;436(7049):424-7.
2005: Thomas J Jentsch; Mallorie Poët; Jens C Fuhrmann; Anselm A Zdebik
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.
Annual review of physiology 2005;67():779-807.
2004: Anselm A Zdebik; John E Cuffe; Marko Bertog; Christoph Korbmacher; Thomas J Jentsch
Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models.
The Journal of biological chemistry 2004;279(21):22276-83.
2002: Thomas J Jentsch; Valentin Stein; Frank Weinreich; Anselm A Zdebik
Molecular structure and physiological function of chloride channels.
Physiological reviews 2002;82(2):503-68.
2001: Michael R Bösl; Valentin Stein; Christian A Hübner; Anselm A Zdebik; SE Jordt; Amal K Mukhopadhyay; Michail S Davidoff; Adolf F Holstein; Thomas J Jentsch
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl(-) channel disruption.
The EMBO journal 2001;20(6):1289-99.
2001: S M Stobrawa; T Breiderhoff; S Takamori; Dominique Engel; Michaela Schweizer; Anselm A Zdebik; Michael R Bösl; Klaus Ruether; H Jahn; Andreas Draguhn; R Jahn; Thomas J Jentsch
Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.
Neuron 2001;29(1):185-96.