Search Results - "HÜBNER, Christian A"

Regulation of endoplasmic reticulum turnover by selective autophagy by Khaminets, Aliaksandr, Heinrich, Theresa, Mari, Muriel, Grumati, Paolo, Huebner, Antje K., Akutsu, Masato, Liebmann, Lutz, Stolz, Alexandra, Nietzsche, Sandor, Koch, Nicole, Mauthe, Mario, Katona, Istvan, Qualmann, Britta, Weis, Joachim, Reggiori, Fulvio, Kurth, Ingo, Hübner, Christian A., Dikic, Ivan

“…The protein FAM134B is an endoplasmic reticulum (ER)-resident receptor that facilitates ER autophagy, and downregulation of this protein (mutations of which…”
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Maternal Oxytocin Triggers a Transient Inhibitory Switch in GABA Signaling in the Fetal Brain During Delivery by Tyzio, Roman, Cossart, Rosa, Khalilov, Ilgam, Minlebaev, Marat, Hübner, Christian A, Represa, Alfonso, Ben-Ari, Yehezkel, Khazipov, Rustem

“…We report a signaling mechanism in rats between mother and fetus aimed at preparing fetal neurons for delivery. In immature neurons, γ-aminobutyric acid (GABA)…”
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Mutual functional dependence of cyclase-associated protein 1 (CAP1) and cofilin1 in neuronal actin dynamics and growth cone function by Schneider, Felix, Duong, Thuy-An, Metz, Isabell, Winkelmeier, Jannik, Hübner, Christian A., Endesfelder, Ulrike, Rust, Marco B.

“…•CAP1 is an important regulator of F-actin organization and dynamics in growth cones.•hippocampal neurons lacking CAP1 display defects in neuron…”
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In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 by Varga, Rita-Eva, Khundadze, Mukhran, Damme, Markus, Nietzsche, Sandor, Hoffmann, Birgit, Stauber, Tobias, Koch, Nicole, Hennings, J Christopher, Franzka, Patricia, Huebner, Antje K, Kessels, Michael M, Biskup, Christoph, Jentsch, Thomas J, Qualmann, Britta, Braulke, Thomas, Kurth, Ingo, Beetz, Christian, Hübner, Christian A

“…Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of…”
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Reduced tonic inhibition after stroke promotes motor performance and epileptic seizures by Jaenisch, Nadine, Liebmann, Lutz, Guenther, Madlen, Hübner, Christian A., Frahm, Christiane, Witte, Otto W.

“…Stroke survivors often recover from motor deficits, either spontaneously or with the support of rehabilitative training. Since tonic GABAergic inhibition…”
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A de novo gain-of-function mutation in SCN11A causes loss of pain perception by Leipold, Enrico, Liebmann, Lutz, Korenke, G Christoph, Heinrich, Theresa, Gießelmann, Sebastian, Baets, Jonathan, Ebbinghaus, Matthias, Goral, R Oliver, Stödberg, Tommy, Hennings, J Christopher, Bergmann, Markus, Altmüller, Janine, Thiele, Holger, Wetzel, Andrea, Nürnberg, Peter, Timmerman, Vincent, De Jonghe, Peter, Blum, Robert, Schaible, Hans-Georg, Weis, Joachim, Heinemann, Stefan H, Hübner, Christian A, Kurth, Ingo

“…Ingo Kurth and colleagues show that a specific de novo missense mutation in SCN11A results in an inability to experience pain. They further show that mutant…”
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The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron by Hennings, J Christopher, Andrini, Olga, Picard, Nicolas, Paulais, Marc, Huebner, Antje K, Cayuqueo, Irma Karen Lopez, Bignon, Yohan, Keck, Mathilde, Cornière, Nicolas, Böhm, David, Jentsch, Thomas J, Chambrey, Régine, Teulon, Jacques, Hübner, Christian A, Eladari, Dominique

“…Chloride transport by the renal tubule is critical for blood pressure (BP), acid-base, and potassium homeostasis. Chloride uptake from the urinary fluid is…”
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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system by Khundadze, Mukhran, Kollmann, Katrin, Koch, Nicole, Biskup, Christoph, Nietzsche, Sandor, Zimmer, Geraldine, Hennings, J Christopher, Huebner, Antje K, Symmank, Judit, Jahic, Amir, Ilina, Elena I, Karle, Kathrin, Schöls, Ludger, Kessels, Michael, Braulke, Thomas, Qualmann, Britta, Kurth, Ingo, Beetz, Christian, Hübner, Christian A

“…Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron…”
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NKCC1, an Elusive Molecular Target in Brain Development: Making Sense of the Existing Data by Virtanen, Mari A, Uvarov, Pavel, Hübner, Christian A, Kaila, Kai

“…Ionotropic GABA transmission is mediated by anion (mainly Cl )-permeable GABA receptors (GABA Rs). In immature neurons, GABA exerts depolarizing and sometimes…”
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NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal-Retzius Cells by Blanquie, Oriane, Liebmann, Lutz, Hübner, Christian A, Luhmann, Heiko J, Sinning, Anne

“…During early development, a substantial proportion of central neurons undergoes programmed cell death. This activity-dependent process is essential for the…”
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Loss of Slc12a2 specifically in pancreatic β-cells drives metabolic syndrome in mice by Abdelgawad, Rana, Rathod, Yakshkumar Dilipbhai, Alshammari, Modhi, Kelly, Lisa, Hübner, Christian A, Aguilar-Bryan, Lydia, Di Fulvio, Mauricio

“…The risk of type-2 diabetes and cardiovascular disease is higher in subjects with metabolic syndrome, a cluster of clinical conditions characterized by…”
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Ubiquitination contributes to the regulation of GDP-mannose pyrophosphorylase B activity by Franzka, Patricia, Mittag, Sonnhild, Chakraborty, Abhijnan, Huber, Otmar, Hübner, Christian A

“…GDP-mannose pyrophosphorylase B (GMPPB) loss-of-function is associated with muscular dystrophy and variable additional neurological symptoms. GMPPB facilitates…”
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Histone demethylase KDM4C is a functional dependency in JAK2-mutated neoplasms by Ernst, Philipp, Schnöder, Tina M., Huber, Nicolas, Perner, Florian, Jayavelu, Ashok Kumar, Eifert, Theresa, Hsu, Chen-Jen, Tubío-Santamaría, Nuria, Crodel, Carl C., Ungelenk, Martin, Hübner, Christian A., Clement, Joachim H., Hochhaus, Andreas, Heidel, Florian H.

“…Mutations of the JAK2 gene are frequent aberrations in the aging hematopoietic system and in myeloid neoplasms. While JAK-inhibitors efficiently reduce…”
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Disruption of vascular Ca2+-activated chloride currents lowers blood pressure by Heinze, Christoph, Seniuk, Anika, Sokolov, Maxim V, Huebner, Antje K, Klementowicz, Agnieszka E, Szijártó, István A, Schleifenbaum, Johanna, Vitzthum, Helga, Gollasch, Maik, Ehmke, Heimo, Schroeder, Björn C, Hübner, Christian A

“…High blood pressure is the leading risk factor for death worldwide. One of the hallmarks is a rise of peripheral vascular resistance, which largely depends on…”
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Pathogenesis of hypertension in a mouse model for human CLCN2 related hyperaldosteronism by Göppner, Corinna, Orozco, Ian J., Hoegg-Beiler, Maja B., Soria, Audrey H., Hübner, Christian A., Fernandes-Rosa, Fabio L., Boulkroun, Sheerazed, Zennaro, Maria-Christina, Jentsch, Thomas J.

“…Human primary aldosteronism (PA) can be caused by mutations in several ion channel genes but mouse models replicating this condition are lacking. We now show…”
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Knockdown of INPP5K compromises the differentiation of N2A cells by Manzolillo, Annamaria, Gresing, Lennart, Hübner, Christian A, Franzka, Patricia

“…Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with…”
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Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant by Leipold, Enrico, Hanson-Kahn, Andrea, Frick, Miya, Gong, Ping, Bernstein, Jonathan A., Voigt, Martin, Katona, Istvan, Oliver Goral, R., Altmüller, Janine, Nürnberg, Peter, Weis, Joachim, Hübner, Christian A., Heinemann, Stefan H., Kurth, Ingo

“…Gain-of-function mutations in the human SCN11A -encoded voltage-gated Na + channel Na V 1.9 cause severe pain disorders ranging from neuropathic pain to…”
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Double Knockout of the Na+-Driven Cl-/HCO3- Exchanger and Na+/Cl- Cotransporter Induces Hypokalemia and Volume Depletion by Sinning, Anne, Radionov, Nikita, Trepiccione, Francesco, López-Cayuqueo, Karen I, Jayat, Maximilien, Baron, Stéphanie, Cornière, Nicolas, Alexander, R Todd, Hadchouel, Juliette, Eladari, Dominique, Hübner, Christian A, Chambrey, Régine

“…We recently described a novel thiazide-sensitive electroneutral NaCl transport mechanism resulting from the parallel operation of the Cl /HCO exchanger pendrin…”
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The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice by Leviel, Françoise, Hübner, Christian A, Houillier, Pascal, Morla, Luciana, El Moghrabi, Soumaya, Brideau, Gaëlle, Hassan, Hatim, Hatim, Hassan, Parker, Mark D, Kurth, Ingo, Kougioumtzes, Alexandra, Sinning, Anne, Pech, Vladimir, Riemondy, Kent A, Miller, R Lance, Hummler, Edith, Shull, Gary E, Aronson, Peter S, Doucet, Alain, Wall, Susan M, Chambrey, Régine, Eladari, Dominique

“…Regulation of sodium balance is a critical factor in the maintenance of euvolemia, and dysregulation of renal sodium excretion results in disorders of altered…”
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Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology by Falk, Julia, Rohde, Magdalena, Bekhite, Mohamed M., Neugebauer, Sophie, Hemmerich, Peter, Kiehntopf, Michael, Deufel, Thomas, Hübner, Christian A., Beetz, Christian

“…ABSTRACT Hereditary axonopathies are frequently caused by mutations in proteins that reside in the endoplasmic reticulum (ER). Which of the many ER functions…”
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