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

по 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
Опубликовано 2012

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

по 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
Опубликовано в: J Am Soc Nephrol (2017)

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

по 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.
Опубликовано 2013

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

по 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.
Опубликовано в: PLoS Genet (2015)

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

по 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.
Опубликовано в: J Am Soc Nephrol (2017)

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

по 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.
Опубликовано в: J Clin Invest (2021)

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

по 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.
Опубликовано 2013

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

по 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.
Опубликовано в: Am J Hum Genet (2020)