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

מאת 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
יצא לאור 2012

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

מאת 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
הוצא לאור ב J Am Soc Nephrol (2017)

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

מאת 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.
יצא לאור 2013

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

מאת 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.
הוצא לאור ב PLoS Genet (2015)

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

מאת 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.
הוצא לאור ב J Am Soc Nephrol (2017)

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

מאת 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.
הוצא לאור ב J Clin Invest (2021)

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

מאת 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.
יצא לאור 2013

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

מאת 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.
הוצא לאור ב Am J Hum Genet (2020)