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

por 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
Publicado 2012

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

por 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
Publicado en J Am Soc Nephrol (2017)

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

por 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.
Publicado 2013

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

por 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.
Publicado en PLoS Genet (2015)

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

por 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.
Publicado en J Am Soc Nephrol (2017)

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

por 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.
Publicado en J Clin Invest (2021)

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

por 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.
Publicado 2013

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

por 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.
Publicado en Am J Hum Genet (2020)