Search Results - "Zdebik, A"

Molecular Structure and Physiological Function of Chloride Channels by Jentsch, Thomas J, Stein, Valentin, Weinreich, Frank, Zdebik, Anselm A

“…Zentrum für Molekulare Neurobiologie Hamburg, Universität Hamburg, Hamburg, Germany Jentsch, Thomas J., Valentin Stein, Frank Weinreich, and Anselm A. Zdebik…”
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Potassium Ion Movement in the Inner Ear: Insights from Genetic Disease and Mouse Models by Zdebik, Anselm A, Wangemann, Philine, Jentsch, Thomas J

“…Anselm A. Zdebik 1 , Philine Wangemann 2 and Thomas J. Jentsch 3 1 UCL, Department of Neuroscience, Physiology, and Pharmacology, and Department of Medicine,…”
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Childhood behavioral inhibition and attachment: Links to generalized anxiety disorder in young adulthood by Zdebik, Magdalena A., Pascuzzo, Katherine, Bureau, Jean-François, Moss, Ellen

“…Generalized anxiety disorder (GAD) is under-treated yet prevalent among young adults. Identifying early risk factors for GAD would contribute to its…”
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Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism by Leray, Xavier, Conti, Rossella, Li, Yan, Debacker, Cécile, Castelli, Florence, Fenaille, François, Zdebik, Anselm A., Pusch, Michael, Gasnier, Bruno

“…Lysosomes degrade excess or damaged cellular components and recycle their building blocks through membrane transporters. They also act as nutrient-sensing…”
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C by Sumner, Charlotte J, Landouré, Guida, Zdebik, Anselm A, Martinez, Tara L, Burnett, Barrington G, Stanescu, Horia C, Inada, Hitoshi, Shi, Yijun, Taye, Addis A, Kong, Lingling, Munns, Clare H, Choo, Shelly S, Phelps, Christopher B, Paudel, Reema, Houlden, Henry, Ludlow, Christy L, Caterina, Michael J, Gaudet, Rachelle, Kleta, Robert, Fischbeck, Kenneth H

“…Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated…”
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Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins by Zdebik, Anselm A, Scheel, Olaf, Lourdel, Stéphane, Jentsch, Thomas J

“…Eukaryotic members of the CLC gene family function as plasma membrane chloride channels, or may provide neutralizing anion currents for V-type H+-ATPases that…”
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EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies by Lo, Jacky, Forst, Anna-Lena, Warth, Richard, Zdebik, Anselm A

“…In 2009, two groups independently linked human mutations in the inwardly rectifying K channel Kir4.1 (gene name ) to a syndrome affecting the central nervous…”
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Residues Important for Nitrate/Proton Coupling in Plant and Mammalian CLC Transporters by Bergsdorf, Eun-Yeong, Zdebik, Anselm A., Jentsch, Thomas J.

“…Members of the CLC gene family either function as chloride channels or as anion/proton exchangers. The plant AtClC-a uses the pH gradient across the vacuolar…”
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Renal intercalated cells are rather energized by a proton than a sodium pump by Chambrey, Régine, Kurth, Ingo, Peti-Peterdi, Janos, Houillier, Pascal, Purkerson, Jeffrey M., Leviel, Françoise, Hentschke, Moritz, Zdebik, Anselm A., Schwartz, George J., Hübner, Christian A., Eladari, Dominique

“…The Na ⁺ concentration of the intracellular milieu is very low compared with the extracellular medium. Transport of Na ⁺ along this gradient is used to fuel…”
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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function by Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph, Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef, Warth, Richard, Giebisch, Gerhard

“…Mutations of the KCNJ10 (Kir4.1) K⁺ channel underlie autosomal recessive epilepsy, ataxia, sensorineural deafness, and (a salt-wasting) renal tubulopathy…”
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Epilepsy in kcnj10 morphant zebrafish assessed with a novel method for long-term EEG recordings by Zdebik, Anselm A, Mahmood, Fahad, Stanescu, Horia C, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

“…We aimed to develop and validate a reliable method for stable long-term recordings of EEG activity in zebrafish, which is less prone to artifacts than current…”
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Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease) by Wager, Kim, Zdebik, Anselm A, Fu, Sonia, Cooper, Jonathan D, Harvey, Robert J, Russell, Claire

“…The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative…”
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Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models by Jentsch, Thomas J, Poët, Mallorie, Fuhrmann, Jens C, Zdebik, Anselm A

“…The CLC gene family encodes nine different Cl() channels in mammals. These channels perform their functions in the plasma membrane or in intracellular…”
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Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins by Zdebik, Anselm A., Zifarelli, Giovanni, Bergsdorf, Eun-Yeong, Soliani, Paolo, Scheel, Olaf, Jentsch, Thomas J., Pusch, Michael

“…Many proteins of the CLC gene family are Cl- channels, whereas others, like the bacterial ecClC-1 or mammalian ClC-4 and -5, mediate Cl-/H+ exchange. Mutating…”
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Disruption of CIC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus by Stobrawa, SM, Breiderhoff, T, Takamori, S, Engel, Dominique, Schweizer, M, Zdebik, A, Bösl, MR, Ruether, K, Jahn, H, Jentsch, TJ

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Role of the Vesicular Chloride Transporter ClC-3 in Neuroendocrine Tissue by Maritzen, Tanja, Keating, Damien J, Neagoe, Ioana, Zdebik, Anselm A, Jentsch, Thomas J

“…ClC-3 is an intracellular chloride transport protein known to reside on endosomes and synaptic vesicles. The endogenous protein has been notoriously difficult…”
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Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2 Cl− channel disruption by Bösl, Michael R., Stein, Valentin, Hübner, Christian, Zdebik, Anselm A., Jordt, Sven-Eric, Mukhopadhyay, Amal K., Davidoff, Michail S., Holstein, Adolf-Friedrich, Jentsch, Thomas J.

“…The functions of some CLC Cl− channels are evident from human diseases that result from their mutations, but the role of the broadly expressed ClC‐2 Cl−…”
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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 by Poët, Mallorie, Kornak, Uwe, Schweizer, Michaela, Zdebik, Anselm A, Scheel, Olaf, Hoelter, Sabine, Wurst, Wolfgang, Schmitt, Anja, Fuhrmann, Jens C, Planells-Cases, Rosa, Mole, Sara E, Hübner, Christian A, Jentsch, Thomas J

“…Mammalian CLC proteins function as Cl − channels or as electrogenic Cl − /H + exchangers and are present in the plasma membrane and intracellular vesicles. We…”
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Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome by Mahmood, Fahad, Mozere, Monika, Zdebik, Anselm A, Stanescu, Horia C, Tobin, Jonathan, Beales, Philip L, Kleta, Robert, Bockenhauer, Detlef, Russell, Claire

“…Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and…”
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Chloride channel diseases resulting from impaired transepithelial transport or vesicular function by Jentsch, Thomas J, Maritzen, Tanja, Zdebik, Anselm A

“…The transport of anions across cellular membranes is crucial for various functions, including the control of electrical excitability of muscle and nerve,…”
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