UNIVERSITÄT ZU KÖLN

Kožich, V., Schwahn, B.C., Sokolová, J., Křížková, M., Ditroi, T., Krijtm J., Khalil, Y., Křížek. T., Vaculíková-Fantlová, T., Stibůrková, B., Milla, P., Clayton, P., Barvíková, K., Blessing, H., Sykut-Cegielska, J., Dionisi-Vici, C., Gasperini, A., García-Cazorla, A., Haack, T.B., Honzík, T., Ješina, P., Kuster, A., Laugwitz, L., Martinelli, D., Porta, F., Santer, R., Schwarz, G., Nagy, P. (2022) Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H₂S homeostasis. Redox Biology 58 (2022) 102517 https://doi.org/10.1016/j.redox.2022.102517

Kaczmarek, A.T., Bender, D., Gehling, T., Kohl, J.B., Daimagüler, H.S., Santamaria-Araujo, J.A., Liebau, M.C., Koy, A., Cirak, S., Schwarz, G. (2021) A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency. JMD https://doi.org/10.1002/jimd.12454

Mellis, A-T., Misko, A.L., Arjune, S., Liang, Y., Erdélyi, K., Ditrói, T., Kaczmarek, A.T., Nagy, P., Schwarz, G. (2021) The role of glutamate oxaloacetate transaminases in sulfite biosynthesis and H2S metabolism. Redox Biology Volume 38 2021, https://doi.org/10.1016/j.redox.2020.101800

Belaidi, A.A., and Schwarz, G. (2013). Molybdenum cofactor deficiency: metabolic link between taurine and S-sulfocysteine. Adv Exp Med Biol 776, 13-19.

Bender, D., Kaczmarek, A.T., Niks, D., Hille, R., and Schwarz, G. (2019). Mechanism of nitrite-dependent NO synthesis by human sulfite oxidase. Biochem J. 476, 1805-1815

Bender, D., Kaczmarek, A.T., Santamaria-Araujo, J.A., Stueve, B., Waltz, S., Bartsch, D., Kurian, L., Cirak, S., and Schwarz, G. (2019b). Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency. Hum Mol Genet. in press, pii: ddz109

Frohlich, M., Dejanovic, B., Kashkar, H., Schwarz, G., and Nussberger, S. (2014). S-palmitoylation represents a novel mechanism regulating the mitochondrial targeting of BAX and initiation of apoptosis. Cell Death Dis 5, e1057.

Kaczmarek, A.T., Strampraad, M.J.F., Hagedoorn, P.L., and Schwarz, G. (2019). Reciprocal regulation of sulfite oxidation and nitrite reduction by mitochondrial sulfite oxidase. Nitric Oxide 89, 22-31.

Kohl, J.B., Mellis, A.T., and Schwarz, G. (2019). Homeostatic impact of sulfite and hydrogen sulfide on cysteine catabolism. Br J Pharmacol 176, 554-570.

Kumar, A., Dejanovic, B., Hetsch, F., Semtner, M., Fusca, D., Arjune, S., Santamaria-Araujo, J.A., Winkelmann, A., Ayton, S., Bush, A.I., et al. Schwarz, G.*, and Belaidi, A.A.(2017). S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. J Clin Invest 127, 4365-4378.

Schwahn, B.C., Van Spronsen, F.J., Belaidi, A.A., Bowhay, S., Christodoulou, J., Derks, T.G., Hennermann, J.B., Jameson, E., Konig, K., McGregor, T.L., et al. Schwarz, G. (2015). Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet 386, 1955-1963.

Schwarz, G., Mendel, R.R., and Ribbe, M.W. (2009). Molybdenum cofactors, enzymes and pathways. Nature 460, 839-847

Veldman, A., Santamaria-Araujo, J.A., Sollazzo, S., Pitt, J., Gianello, R., Yaplito-Lee, J., Wong, F., Ramsden, C.A., Reiss, J., Cook, I., et al. Schwarz, G. (2010). Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 125, e1249-1254