TCK: a clinical genetics data collection system von Gersting, J M, Waterson, J R, Gersting, A M

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IL-37 requires the receptors IL-18Rα and IL-1R8 (SIGIRR) to carry out its multifaceted anti-inflammatory program upon innate signal transduction von Nold-Petry, Claudia A, Lo, Camden Y, Rudloff, Ina, Elgass, Kirstin D, Li, Suzhao, Gantier, Michael P, Lotz-Havla, Amelie S, Gersting, Søren W, Cho, Steven X, Lao, Jason C, Ellisdon, Andrew M, Rotter, Björn, Azam, Tania, Mangan, Niamh E, Rossello, Fernando J, Whisstock, James C, Bufler, Philip, Garlanda, Cecilia, Mantovani, Alberto, Dinarello, Charles A, Nold, Marcel F

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The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response von STAUDIGL, Michael, GERSTING, Soren W, DANECKA, Marta K, MESSING, Dunja D, WOIDY, Mathias, PINKAS, Daniel, KEMTER, Kristina F, BLAU, Nenad, MUNTAU, Ania C

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Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy von Braun, Fabian, Abed, Ahmed, Sellung, Dominik, Rogg, Manuel, Woidy, Mathias, Eikrem, Oysten, Wanner, Nicola, Gambardella, Jessica, Laufer, Sandra D, Haas, Fabian, Wong, Milagros N, Dumoulin, Bernhard, Rischke, Paula, Mühlig, Anne, Sachs, Wiebke, von Cossel, Katharina, Schulz, Kristina, Muschol, Nicole, Gersting, Sören W, Muntau, Ania C, Kretz, Oliver, Hahn, Oliver, Rinschen, Markus M, Mauer, Michael, Bork, Tillmann, Grahammer, Florian, Liang, Wei, Eierhoff, Thorsten, Römer, Winfried, Hansen, Arne, Meyer-Schwesinger, Catherine, Iaccarino, Guido, Tøndel, Camilla, Marti, Hans-Peter, Najafian, Behzad, Puelles, Victor G, Schell, Christoph, Huber, Tobias B

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Novel pharmacological chaperones that correct phenylketonuria in mice von SANTOS-SIERRA, Sandra, KIRCHMAIR, Johannes, LAGLER, Florian B, PERNA, Anna M, REISS, Dunja, KEMTER, Kristina, RÖSCHINGER, Wulf, GLOSSMANN, Hartmut, GERSTING, Soren W, MUNTAU, Ania C, WOLBER, Gerhard

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Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1 von Barroso, Madalena, Puchwein-Schwepcke, Alexandra, Buettner, Lars, Goebel, Ingrid, Küchler, Katrin, Muntau, Ania C., Delgado, Aida, Garcia-Collazo, Ana M., Martinell, Marc, Barril, Xavier, Cubero, Elena, Gersting, Søren W.

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The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase von Jank, Johanna M, Maier, Esther M, Reiβ, Dunja D, Haslbeck, Martin, Kemter, Kristina F, Truger, Marietta S, Sommerhoff, Christian P, Ferdinandusse, Sacha, Wanders, Ronald J, Gersting, Søren W, Muntau, Ania C

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iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations von Lotz-Havla, Amelie S, Woidy, Mathias, Guder, Philipp, Friedel, Caroline C, Klingbeil, Julian M, Bulau, Ana-Maria, Schultze, Anja, Dahmen, Ilona, Noll-Puchta, Heidi, Kemp, Stephan, Erdmann, Ralf, Zimmer, Ralf, Muntau, Ania C, Gersting, Søren W

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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder von Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

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Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening von Maier, Esther M., Gersting, Søren W., Kemter, Kristina F., Jank, Johanna M., Reindl, Maria, Messing, Dunja D., Truger, Marietta S., Sommerhoff, Christian P., Muntau, Ania C.

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Childhood asthma is associated with mutations and gene expression differences of ORMDL genes that can interact von Toncheva, A. A., Potaczek, D. P., Schedel, M., Gersting, S. W., Michel, S., Krajnov, N., Gaertner, V. D., Klingbeil, J. M., Illig, T., Franke, A., Winkler, C., Hohlfeld, J. M., Vogelberg, C., Berg, A., Bufe, A., Heinzmann, A., Laub, O., Rietschel, E., Simma, B., Genuneit, J., Muntau, A. C., Kabesch, M.

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Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria von Stéphenne, X., Debray, F. G., Smets, F., Jazouli, N., Sana, G., Tondreau, T., Menten, R., Goffette, P., Boemer, F., Schoos, R., Gersting, S. W., Najimi, M., Muntau, A. C., Goyens, P., Sokal, E. M.

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Cardiovascular Interactions Tutorial: An Update von Gersting, John M., Shepherd, A. P., Ma, Tony

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Varicella Zoster Virus ORF25 Gene Product: An Essential Hub Protein Linking Encapsidation Proteins and the Nuclear Egress Complex von Vizoso Pinto, Maria G., Pothineni, Venkata R., Haase, Rudolf, Woidy, Mathias, Lotz-Havla, Amelie S., Gersting, Søren W., Muntau, Ania C., Haas, Jürgen, Sommer, Marvin, Arvin, Ann M., Baiker, Armin

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Synuclein Alpha Accumulation Drives Lysosomal Dysfunction in Fabry Podocytopathy: PO1339 von Braun, Fabian, Abed, Ahmed, Woidy, Mathias, Eikrem, Oystein, Wanner, Nicola, von Cossel, Katharina M., Gersting, Soeren W., Muntau, Ania C., Najafian, Behzad, Tøndel, Camilla, Mauer, Michael, Grahammer, Florian, Eierhoff, Thorsten, Marti, Hans-Peter, Puelles, Victor G., Schell, Christoph, Huber, Tobias B.

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Long-Term Antibody Response to SARS-CoV-2 in Children von Dunay, Gabor A., Barroso, Madalena, Woidy, Mathias, Danecka, Marta K., Engels, Geraldine, Hermann, Katharina, Neumann, Friederike S., Paul, Kevin, Beime, Jan, Escherich, Gabriele, Fehse, Kristin, Grinstein, Lev, Haniel, Franziska, Haupt, Luka J., Hecher, Laura, Kehl, Torben, Kemen, Christoph, Kemper, Markus J., Kobbe, Robin, Kohl, Aloisa, Klokow, Thomas, Nörz, Dominik, Olfe, Jakob, Schlenker, Friderike, Schmiesing, Jessica, Schrum, Johanna, Sibbertsen, Freya, Stock, Philippe, Tiede, Stephan, Vettorazzi, Eik, Zazara, Dimitra E., Zapf, Antonia, Lütgehetmann, Marc, Oh, Jun, Mir, Thomas S., Muntau, Ania C., Gersting, Søren W.

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Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy von Braun, Fabian, Abed, Ahmed, Sellung, Dominik, Rogg, Manuel, Woidy, Mathias, Eikrem, Oysten, Wanner, Nicola, Gambardella, Jessica, Laufer, Sandra D, Haas, Fabian, Wong, Milagros N, Dumoulin, Bernhard, Rischke, Paula, Mühlig, Anne, Sachs, Wiebke, Cossel, Katharina Von, Schulz, Kristina, Muschol, Nicole, Gersting, Sören W, Muntau, Ania C, Kretz, Oliver, Hahn, Oliver, Rinschen, Markus M, Mauer, Michael, Bork, Tillmann, Grahammer, Florian, Liang, Wei, Eierhoff, Thorsten, Römer, Winfried, Hansen, Arne, Meyer-Schwesinger, Catherine, Iaccarino, Guido, Tøndel, Camilla, Marti, HANS-PETER, Najafian, Behzad, Puelles, Victor G, Schell, Christoph, Huber, Tobias B

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Genomic analysis of neuroendocrine development of fetal brain-pituitary-adrenal axis in late gestation von Keller-Wood, Maureen, Powers, Melanie J, Gersting, Jason A, Ali, Nyima, Wood, Charles E

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515 LENTIVIRAL ‘GENE ONTOLOGY’ (LEGO) VECTORS ENABLE HIGHLY EFFICIENT EX VIVO TRANSDUCTION OF HEPATOCYTES SUITABLE FOR CELL TRANSPLANTATION von Warlich, M, Weber, K, Thomaschewski, M, Lütgehetmann, M, Volz, T, Pollok, J.M, Gersting, S, Borsch, J, Santer, R, Ullrich, K, Lohse, A.W, Dandri, M, Fehse, B, Benten, D

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IL-37 requires the receptors IL-18R[alpha] and IL-1R8 (SIGIRR) to carry out its multifaceted anti-inflammatory program upon innate signal transduction von Nold-petry, Claudia A, Lo, Camden Y, Rudloff, Ina, Elgass, Kirstin D, Li, Suzhao, Gantier, Michael P, Lotz-havla, Amelie S, Gersting, Søren W, Cho, Steven X, Lao, Jason C, Ellisdon, Andrew M, Rotter, Björn, Azam, Tania, Mangan, Niamh E, Rossello, Fernando J, Whisstock, James C, Bufler, Philip, Garlanda, Cecilia, Mantovani, Alberto, Dinarello, Charles A, Nold, Marcel F

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