Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Markus Reichold"'
Autor:
Elena-Sofia Heinl, Sebastian Lorenz, Barbara Schmidt, Nouf Nasser M Laqtom, Joseph R. Mazzulli, Laetitia Francelle, Timothy W. Yu, Benjamin Greenberg, Stephan Storch, Ines Tegtmeier, Helga Othmen, Katja Maurer, Malin Steinfurth, Ralph Witzgall, Vladimir Milenkovic, Christian H. Wetzel, Markus Reichold
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105082- (2022)
Summary: The SARS-CoV-2 virus has triggered a worldwide pandemic. According to the BioGrid database, CLN7 (MFSD8) is thought to interact with several viral proteins. The aim of this work was to investigate a possible involvement of CLN7 in the infect
Externí odkaz:
https://doaj.org/article/edaf365365c74efab193fd8d1643bbfe
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex si
Externí odkaz:
https://doaj.org/article/2d9ae1f8b8a345c6b3257a0d46db60c7
Autor:
Nadine Assmann, Katja Dettmer, Johann M.B. Simbuerger, Carsten Broeker, Nadine Nuernberger, Kathrin Renner, Holly Courtneidge, Enriko D. Klootwijk, Axel Duerkop, Andrew Hall, Robert Kleta, Peter J. Oefner, Markus Reichold, Joerg Reinders
Publikováno v:
Cell Reports, Vol 15, Iss 7, Pp 1423-1429 (2016)
Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial ene
Externí odkaz:
https://doaj.org/article/977c6d84183f4d7eb6549ff6ca0060af
Autor:
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
Publikováno v:
J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, Limm, K, Oefner, P, Witzgall, R, Fu, L, Theilig, F, Schilling, A, Shuster Biton, E, Kalfon, L, Fedida, A, Arnon-Sheleg, E, Ben Izhak, O, Magen, D, Anikster, Y, Schulze, H, Ziegler, C, Lowe, M, Davies, B, Böckenhauer, D, Kleta, R, Falik Zaccai, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understoo
Autor:
Eva, Schöller, James, Marks, Virginie, Marchand, Astrid, Bruckmann, Christopher A, Powell, Markus, Reichold, Christian Daniel, Mutti, Katja, Dettmer, Regina, Feederle, Stefan, Hüttelmaier, Mark, Helm, Peter, Oefner, Michal, Minczuk, Yuri, Motorin, Markus, Hafner, Gunter, Meister
Publikováno v:
Molecular cell. 81(23)
Mitochondria contain a specific translation machinery for the synthesis of mitochondria-encoded respiratory chain components. Mitochondrial tRNAs (mt-tRNAs) are also generated from the mitochondrial DNA and, similar to their cytoplasmic counterparts,
Autor:
Gunter Meister, Regina Feederle, Eva Schöller, Astrid Bruckmann, Christian Daniel Mutti, Katja Dettmer, Peter J. Oefner, Stefan Hüttelmaier, Mark Helm, Yuri Motorin, James Marks, Markus Hafner, Virginie Marchand, Markus Reichold, Michal Minczuk, Christopher A. Powell
Publikováno v:
Mol. Cell 81, 4810-4825.e12 (2021)
Molecular Cell
Molecular Cell, Elsevier, 2021, ⟨10.1016/j.molcel.2021.10.018⟩
Molecular Cell
Molecular Cell, Elsevier, 2021, ⟨10.1016/j.molcel.2021.10.018⟩
Mitochondria contain a specific translation machinery for the synthesis of mitochondria-encoded respiratory chain components. Mitochondrial tRNAs (mt-tRNAs) are also generated from the mitochondrial DNA and, similar to their cytoplasmic counterparts,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::671f1bed25c35dc116197227890101de
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63657
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=63657
Autor:
Andrew M. Hall, Kathrin Renner, Markus Reichold, Nadine Assmann, Katja Dettmer, Carsten Broeker, Peter J. Oefner, Enriko Klootwijk, Nadine Nuernberger, Holly Courtneidge, Joerg Reinders, Johann M.B Simbuerger, Robert Kleta, Axel Duerkop
Publikováno v:
Cell Reports, Vol 15, Iss 7, Pp 1423-1429 (2016)
Summary: We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial ene
Autor:
Mahim Jain, Daniela Iancu, Joana Raquel Martins, Robert J. Unwin, Kathrin Renner, Naomi Issler, Chi-Un Choe, Hannes Doellerer, Ralph Witzgall, Stephen B. Walsh, Sulochana Devi, Monika Mozere, Robert Kleta, Johann M.B Simbuerger, Kevin O'Brien, Anne Kesselheim, Markus Reichold, Paldeep S. Atwal, Michael Kasgharian, Uta Lichter-Konecki, William A. Gahl, Carlos Ferreira, Julia Wiesner, Vaksha Patel, Horia Stanescu, Peter J. Oefner, Graciana Jaureguiberry, Christopher W. Pugh, Mario Milani, Joerg Reinders, Christina Sterner, Detlef Bockenhauer, Sue Povey, Simona Dumitriu, Chris Laing, Ben Davies, Carsten Broeker, David S. Konecki, Roland Schmitt, Alexander Hammers, Richard Sandford, Enriko Klootwijk, Dirk Isbrandt, Richard Warth, Daniel P. Gale, Andrew M. Hall, Alberto Cebrian-Serrano, Alexander J. Howie, Weibin Zhou, Geoffrey Charles-Edwards, Ines Tegtmeier, Edgar A. Otto, Mehmet Tekman, Katja Dettmer
Publikováno v:
Journal of the American Society of Nephrology 29(7), 1849-1858 (2018). doi:10.1681/ASN.2017111179
Journal of the American Society of Nephrology 29 (2018): 1849–1858. doi:10.1681/ASN.2017111179
info:cnr-pdr/source/autori:Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R/titolo:Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure/doi:10.1681%2FASN.2017111179/rivista:Journal of the American Society of Nephrology/anno:2018/pagina_da:1849/pagina_a:1858/intervallo_pagine:1849–1858/volume:29
Journal of the American Society of Nephrology 29 (2018): 1849–1858. doi:10.1681/ASN.2017111179
info:cnr-pdr/source/autori:Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R/titolo:Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure/doi:10.1681%2FASN.2017111179/rivista:Journal of the American Society of Nephrology/anno:2018/pagina_da:1849/pagina_a:1858/intervallo_pagine:1849–1858/volume:29
Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure. Methods We clinically and genetically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baaa6ddb5c84630d07d85e382ece0673
https://doi.org/10.1681/asn.2017111179
https://doi.org/10.1681/asn.2017111179
Autor:
Detlef Bockenhauer, Markus Reichold, H Stanescu, S. Bandulik, Anselm A. Zdebik, Richard Warth, Robert Kleta
Publikováno v:
Der Nephrologe. 6:529-536
Autor:
Louise Brueton, Evangeline Wassmer, Nathalie Dorison, Markus Reichold, Bernard Freudenthal, Anselm A. Zdebik, Milos Ognjanovic, Mehul A. Shah, Lokesh Lingappa, Duvaraka Kulaveerasingam, Robert Kleta, Detlef Bockenhauer
Publikováno v:
Nephron Physiology. 119:p40-p48
Background/Aims: Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4.1 cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (EAST syndrome). KCNJ10 is expressed in the kidney distal c