A08 - Ferroptosis and regulated cell death in sulphite oxidase deficiency
Günter Schwarz
Department of Biochemistry, University of Cologne
Contact: gschwarz(at)uni-koeln.de
For more information visit: Schwarz Lab
Abstract
Sulphite oxidase deficiency (SOXD) and molybdenum cofactor deficiency (MoCD) are autosomal recessive inborn errors of metabolism characterised by neurodegeneration and death in early childhood. The underlying molecular mechanisms leading to neuronal cell death and tissue degeneration are poorly understood. This project will investigate the role of ferroptosis and other pathways of regulated cell death (RCD) in the pathogenesis of SOXD, and address the underlying mechanisms using disease models for the patient phenotype aiming to develop treatments that target cell death pathways in both disorders.
Recent Publications
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