A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

door Hennings, J Christopher, Picard, Nicolas, Huebner, Antje K, Stauber, Tobias, Maier, Hannes, Brown, Dennis, Jentsch, Thomas J, Vargas-Poussou, Rosa, Eladari, Dominique, Hübner, Christian A
Gepubliceerd in 2012

The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron

door 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
Gepubliceerd in J Am Soc Nephrol (2017)

A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

door 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.
Gepubliceerd in 2013

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

door 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.
Gepubliceerd in PLoS Genet (2015)

Intercalated Cell Depletion and Vacuolar H(+)-ATPase Mistargeting in an Ae1 R607H Knockin Model

door Mumtaz, Rizwan, Trepiccione, Francesco, Hennings, J. Christopher, Huebner, Antje K., Serbin, Bettina, Picard, Nicolas, Ullah, A. K. M. Shahid, Păunescu, Teodor G., Capen, Diane E., Lashhab, Rawad M., Mouro-Chanteloup, Isabelle, Alper, Seth L., Wagner, Carsten A., Cordat, Emmanuelle, Brown, Dennis, Eladari, Dominique, Hübner, Christian A.
Gepubliceerd in J Am Soc Nephrol (2017)

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

door Franzka, Patricia, Henze, Henriette, Jung, M. Juliane, Schüler, Svenja Caren, Mittag, Sonnhild, Biskup, Karina, Liebmann, Lutz, Kentache, Takfarinas, Morales, José, Martínez, Braulio, Katona, Istvan, Herrmann, Tanja, Huebner, Antje-Kathrin, Hennings, J. Christopher, Groth, Susann, Gresing, Lennart, Horstkorte, Rüdiger, Marquardt, Thorsten, Weis, Joachim, Kaether, Christoph, Mutchinick, Osvaldo M., Ori, Alessandro, Huber, Otmar, Blanchard, Véronique, von Maltzahn, Julia, Hübner, Christian A.
Gepubliceerd in J Clin Invest (2021)

Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction

door Koehler, Katrin, Malik, Meera, Mahmood, Saqib, Gießelmann, Sebastian, Beetz, Christian, Hennings, J. Christopher, Huebner, Antje K., Grahn, Ammi, Reunert, Janine, Nürnberg, Gudrun, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Mumtaz, Rizwan, Babovic-Vuksanovic, Dusica, Basel-Vanagaite, Lina, Borck, Guntram, Brämswig, Jürgen, Mühlenberg, Reinhard, Sarda, Pierre, Sikiric, Alma, Anyane-Yeboa, Kwame, Zeharia, Avraham, Ahmad, Arsalan, Coubes, Christine, Wada, Yoshinao, Marquardt, Thorsten, Vanderschaeghe, Dieter, Van Schaftingen, Emile, Kurth, Ingo, Huebner, Angela, Hübner, Christian A.
Gepubliceerd in 2013

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

door Husain, Ralf A., Grimmel, Mona, Wagner, Matias, Hennings, J. Christopher, Marx, Christian, Feichtinger, René G., Saadi, Abdelkrim, Rostásy, Kevin, Radelfahr, Florentine, Bevot, Andrea, Döbler-Neumann, Marion, Hartmann, Hans, Colleaux, Laurence, Cordts, Isabell, Kobeleva, Xenia, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C., Besse, Arnaud, Ng, Andy Cheuk-Him, Chiang, Diana, Bolduc, Francois, Tafakhori, Abbas, Mane, Shrikant, Ghasemi Firouzabadi, Saghar, Huebner, Antje K., Buchert, Rebecca, Beck-Woedl, Stefanie, Müller, Amelie J., Laugwitz, Lucia, Nägele, Thomas, Wang, Zhao-Qi, Strom, Tim M., Sturm, Marc, Meitinger, Thomas, Klockgether, Thomas, Riess, Olaf, Klopstock, Thomas, Brandl, Ulrich, Hübner, Christian A., Deschauer, Marcus, Mayr, Johannes A., Bonnen, Penelope E., Krägeloh-Mann, Ingeborg, Wortmann, Saskia B., Haack, Tobias B.
Gepubliceerd in Am J Hum Genet (2020)