Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Antje K. Huebner"'
Autor:
J. Christopher Hennings, Nicolas Picard, Antje K. Huebner, Tobias Stauber, Hannes Maier, Dennis Brown, Thomas J. Jentsch, Rosa Vargas‐Poussou, Dominique Eladari, Christian A. Hübner
Publikováno v:
EMBO Molecular Medicine, Vol 4, Iss 10, Pp 1057-1071 (2012)
Abstract The V‐ATPase is a multisubunit complex that transports protons across membranes. Mutations of its B1 or a4 subunit are associated with distal renal tubular acidosis and deafness. In the kidney, the a4 subunit is expressed in intercalated c
Externí odkaz:
https://doaj.org/article/6264d470c0c14d32bb944a94935ba5d0
Autor:
Rita-Eva Varga, Mukhran Khundadze, Markus Damme, Sandor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J Christopher Hennings, Patricia Franzka, Antje K Huebner, Michael M Kessels, Christoph Biskup, Thomas J Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A Hübner
Publikováno v:
PLoS Genetics, Vol 11, Iss 8, p e1005454 (2015)
Hereditary spastic paraplegia (HSP) is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutati
Externí odkaz:
https://doaj.org/article/1fa6a82e141e4992ad336808f0f0fef5
Autor:
Giorgia Di Lorenzo, Alessio Reggio, Carmine Cirillo, Elena Polishchuk, Adeela Hussain, Mariana Tellechea, Paolo Grumati, Alexandra Stolz, Marianna Esposito, Ivana Peluso, Antje K. Huebner, Christian A. Hübner, Viviana Buonomo, Carmine Settembre, Rayene Berkane, Ramachandra M. Bhaskara, Gerhard Hummer
Publikováno v:
EMBO Reports
EMBO reports
EMBO reports
Degradation of the endoplasmic reticulum (ER) via selective autophagy (ER‐phagy) is vital for cellular homeostasis. We identify FAM134A/RETREG2 and FAM134C/RETREG3 as ER‐phagy receptors, which predominantly exist in an inactive state under basal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e2ada37bbe88407d38b09df8710c82f
https://pubmed.ncbi.nlm.nih.gov/34338405
https://pubmed.ncbi.nlm.nih.gov/34338405
Autor:
Antje K. Huebner, S. Jovanovic, A. Maul, Christian A. Hübner, Tobias Moser, Nicola Strenzke, R. Rübsamen
SummaryBefore hearing onset (postnatal day 12 in mice), inner hair cells (IHC) spontaneously fire action potentials thereby driving pre-sensory activity in the ascending auditory pathway. The rate of IHC action potential bursts is modulated by inner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74c2c34f25bd4645f01b5227fe12d56e
https://doi.org/10.1101/2021.07.05.451099
https://doi.org/10.1101/2021.07.05.451099
Autor:
Alena Maul, Jeppe Praetorius, Tanja Herrmann, Hannes Maier, Antje K. Huebner, Sandor Nietzsche, Christian A. Hübner
Publikováno v:
J Assoc Res Otolaryngol
Huebner, A K, Maier, H, Maul, A, Nietzsche, S, Herrmann, T, Praetorius, J & Hübner, C A 2019, ' Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice ', Journal of the Association for Research in Otolaryngology, vol. 20, no. 3, pp. 233-245 . https://doi.org/10.1007/s10162-019-00719-1
Huebner, A K, Maier, H, Maul, A, Nietzsche, S, Herrmann, T, Praetorius, J & Hübner, C A 2019, ' Early Hearing Loss upon Disruption of Slc4a10 in C57BL/6 Mice ', Journal of the Association for Research in Otolaryngology, vol. 20, no. 3, pp. 233-245 . https://doi.org/10.1007/s10162-019-00719-1
The unique composition of the endolymph with a high extracellular K + concentration is essential for sensory transduction in the inner ear. It is secreted by a specialized epithelium, the stria vascularis, that is connected to the fibrocyte meshwork
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47c9e2d2da0a0a45705be7e40557bf86
https://doi.org/10.1007/s10162-019-00719-1
https://doi.org/10.1007/s10162-019-00719-1
Autor:
Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sandor Nietzsche, Geraldine Zimmer, J Christopher Hennings, Antje K Huebner, Judit Symmank, Amir Jahic, Elena I Ilina, Kathrin Karle, Ludger Schöls, Michael Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A Hübner
Publikováno v:
PLoS Genetics, Vol 9, Iss 12, p e1003988 (2013)
Hereditary spastic paraplegias (HSPs) are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene
Externí odkaz:
https://doaj.org/article/605acb884deb4af0b7d161000214be9f
Autor:
Marianna Maddaluno, Carmela Lanzara, Paolo Grumati, Ivan Conte, Christian A. Hübner, Chiara Di Malta, Maria Iavazzo, Antje K. Huebner, Daniela Intartaglia, Carmine Settembre, Francesco Giuseppe Salierno, Chiara De Leonibus, Florian Bonn, Maria Svelto, Rossella De Cegli, Matthias Mann, Ivan Dikic, Luca Giorgio Wanderlingh, Laura Cinque, Francesca Sacco, Elena Polishchuk, Andrea Ballabio, Marcella Cesana, Natalie Krahmer
Publikováno v:
EMBO Journal
Cinque, L, De Leonibus, C, Iavazzo, M, Krahmer, N, Intartaglia, D, Salierno, F G, De Cegli, R, Di Malta, C, Svelto, M, Lanzara, C, Maddaluno, M, Wanderlingh, L G, Huebner, A K, Cesana, M, Bonn, F, Polishchuk, E, Huebner, C A, Conte, I, Dikic, I, Mann, M, Ballabio, A, Sacco, F, Grumati, P & Settembre, C 2020, ' MiT/TFEfactors controlER-phagy via transcriptional regulation ofFAM134B ', EMBO Journal, vol. 39, no. 17, 105696 . https://doi.org/10.15252/embj.2020105696
The EMBO Journal
EMBO J. 39:e105696 (2020)
Cinque, L, De Leonibus, C, Iavazzo, M, Krahmer, N, Intartaglia, D, Salierno, F G, De Cegli, R, Di Malta, C, Svelto, M, Lanzara, C, Maddaluno, M, Wanderlingh, L G, Huebner, A K, Cesana, M, Bonn, F, Polishchuk, E, Huebner, C A, Conte, I, Dikic, I, Mann, M, Ballabio, A, Sacco, F, Grumati, P & Settembre, C 2020, ' MiT/TFEfactors controlER-phagy via transcriptional regulation ofFAM134B ', EMBO Journal, vol. 39, no. 17, 105696 . https://doi.org/10.15252/embj.2020105696
The EMBO Journal
EMBO J. 39:e105696 (2020)
Lysosomal degradation of the endoplasmic reticulum (ER) via autophagy (ER‐phagy) is emerging as a critical regulator of cell homeostasis and function. The recent identification of ER‐phagy receptors has shed light on the molecular mechanisms unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd242c406dbd6595cd4e0b88685ad65
https://doi.org/10.15252/embj.2020105696
https://doi.org/10.15252/embj.2020105696
Autor:
Andrea Bevot, Diana Chiang, Laurence Colleaux, Christian A. Hübner, Hans Hartmann, Zhao-Qi Wang, Tobias B. Haack, Ralf A. Husain, J. Christopher Hennings, Kevin Rostasy, Michael C. Kruer, Hossein Darvish, Olaf Riess, Andy Cheuk Him Ng, Marion Döbler-Neumann, Tim M. Strom, Lucia Laugwitz, Johannes A. Mayr, Thomas Klopstock, Xenia Kobeleva, René G. Feichtinger, Saghar Ghasemi Firouzabadi, Rebecca Buchert, Amelie J. Müller, Matias Wagner, Antje K. Huebner, Shrikant Mane, Marcus Deschauer, Ingeborg Krägeloh-Mann, Abdelkrim Saadi, Ulrich Brandl, Penelope E. Bonnen, Christian Marx, Isabell Cordts, Thomas Klockgether, Abbas Tafakhori, Thomas Meitinger, Florentine Radelfahr, Arnaud Besse, Mona Grimmel, Marc Sturm, Saskia B. Wortmann, Somayeh Bakhtiari, Francois V. Bolduc, Stefanie Beck-Woedl, Thomas Nägele
Publikováno v:
The American journal of human genetics 107(2), 364-373 (2020). doi:10.1016/j.ajhg.2020.06.015
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.364-373. ⟨10.1016/j.ajhg.2020.06.015⟩
Am J Hum Genet
Am. J. Hum. Genet. 107, 364-373 (2020)
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.364-373. ⟨10.1016/j.ajhg.2020.06.015⟩
Am J Hum Genet
Am. J. Hum. Genet. 107, 364-373 (2020)
International audience; We report bi-allelic pathogenic HPDL variants as a cause of a progressive, pediatric-onset spastic movement disorder with variable clinical presentation. The single-exon gene HPDL encodes a protein of unknown function with seq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03a6b1699a506f1613e8922c058bf730
Autor:
Gerrit Hilgen, Antje K Huebner, Naoyuki Tanimoto, Vithiyanjali Sothilingam, Christina Seide, Marina Garcia Garrido, Karl-Friedrich Schmidt, Mathias W Seeliger, Siegrid Löwel, Reto Weiler, Christian A Hübner, Karin Dedek
Publikováno v:
PLoS ONE, Vol 7, Iss 10, p e46155 (2012)
Regulation of ion and pH homeostasis is essential for normal neuronal function. The sodium-driven chloride bicarbonate exchanger NCBE (Slc4a10), a member of the SLC4 family of bicarbonate transporters, uses the transmembrane gradient of sodium to dri
Externí odkaz:
https://doaj.org/article/ad4f535473474f3c861e01bdc96b4f29
Autor:
Francesco Trepiccione, Christian Huebner, Marion Godefroy, J. Christopher Hennings, Nicolas Picard, Dominique Eladari, Antje K. Huebner
Publikováno v:
The FASEB Journal. 33
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8046a5515086d039e1e54bb727c3585e
https://doi.org/10.1096/fasebj.2019.33.1_supplement.544.11
https://doi.org/10.1096/fasebj.2019.33.1_supplement.544.11