Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Johann M.B Simbuerger"'
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e804b55763f68347989afa8fed95ce8e
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
