Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Enriko D. Klootwijk"'
Autor:
Valentina Marchesin, Albert Pérez-Martí, Gwenn Le Meur, Roman Pichler, Kelli Grand, Enriko D. Klootwijk, Anne Kesselheim, Robert Kleta, Soeren Lienkamp, Matias Simons
Publikováno v:
Cell Reports, Vol 29, Iss 13, Pp 4407-4421.e5 (2019)
Summary: HNF4A is a nuclear hormone receptor that binds DNA as an obligate homodimer. While all known human heterozygous mutations are associated with the autosomal-dominant diabetes form MODY1, one particular mutation (p.R85W) in the DNA-binding dom
Externí odkaz:
https://doaj.org/article/f2fbf2aa5c0f464d94cfbc91535c9623
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