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Trinh, J., Hicks, A. A., König, I. R., Delcambre, S., Lüth, T., Schaake, S., Wasner, K., Ghelfi, J., Borsche, M., Vilariño-Güell, C., Hentati, F., Germer, E. L., Bauer, P., Takanashi, M., Kostić, V., Lang, A. E., Brüggemann, N., Pramstaller, P. P., Pichler, I., ... Grünewald, A. (July 2023). Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease. Brain, 146 (7), 2753–2765. doi:10.1093/brain/awac464 Peer reviewed |
Trinh, J., Hicks, A. A., Koenig, I. R., Delcambre, S., Lueth, T., Schaake, S., Wasner, K., Ghelfi, J., Borsche, M., Vilarino-Guell, C., Hentati, F., Germer, E. L., Bauer, P., Takanashi, M., Kostic, V., Lang, A. E., Brueggeman, N., Pramstaller, P. P., Pichler, I., ... Grünewald, A. (2022). Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1- and PRKN-linked Parkinson's disease 2022.05.17.22275087. ORBilu-University of Luxembourg. https://orbilu.uni.lu/handle/10993/51280. doi:10.1101/2022.05.17.22275087 |
Smajic, S., Prada-Medina, C. A., Landoulsi, Z., Ghelfi, J., Delcambre, S., Dietrich, C., Jarazo, J., Henck, J., Balachandran, S., Pachchek, S., Morris, C. M., Antony, P., Timmermann, B., Sauer, S., Pereira, S. L., Schwamborn, J. C., May, P., Grünewald, A., & Spielmann, M. (29 April 2022). Single-cell sequencing of human midbrain reveals glial activation and a Parkinson-specific neuronal state. Brain: a Journal of Neurology, 145 (3), 964-978. doi:10.1093/brain/awab446 Peer Reviewed verified by ORBi |
Wasner, K., Smajic, S., Ghelfi, J., Delcambre, S., Prada-Medina, C. A., Knappe, E., Arena, G., Mulica, P., Agyeah, G., Rakovic, A., Boussaad, I., Badanjak, K., Ohnmacht, J., Gerardy, J.-J., Takanashi, M., Trinh, J., Mittelbronn, M., Hattori, N., Klein, C., ... Grünewald, A. (2022). Parkin Deficiency Impairs Mitochondrial DNA Dynamics and Propagates Inflammation. Movement disorders : official journal of the Movement Disorder Society. doi:10.1002/mds.29025 Peer reviewed |
Borsche, M., Koenig, I., Delcambre, S., Petrucci, S., Balck, A., Brueggemann, N., Zimprich, A., Wasner, K., Cardoso Pereira, S. L., Avenali, M., Deuschle, C., Badanjak, K., Ghelfi, J., Gasser, T., Kasten, M., Rosenstiel, P., Lohmann, K., Brockmann, K., Valente, E. M., ... Klein, C. (2020). Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism. Brain: a Journal of Neurology. doi:10.1093/NTR/NTV039 Peer Reviewed verified by ORBi |
Neumann, M. A.-C.* , Grossmann, D.* , Schimpf-Linzenbold, S., Dayan, D., Stingl, K., Ben-Menachem, R., Pines, O., Massart, F., Delcambre, S., Ghelfi, J., Bohler, J., Strom, T., Kessel, A., Azem, A., Schöls, L., Grünewald, A., Wissinger, B., & Krüger, R. (2020). Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. Scientific Reports. doi:10.1038/s41598-020-73557-4 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Delcambre, S., Ghelfi, J., Ouzren, N., Grandmougin, L., Delbrouck, C., Seibler, P., Wasner, K., Aasly, J., Klein, C., Trinh, J., Cardoso Pereira, S. L., & Grünewald, A. (2020). Mitochondrial Mechanisms of LRRK2 G2019S Penetrance. Frontiers in Neurology. doi:10.3389/fneur.2020.00881 Peer Reviewed verified by ORBi |
Ouzren, N., Delcambre, S., Ghelfi, J., Seibler, P., Farrer, M. J., König, I., Aasly, J. O., Trinh, J., Klein, C., & Grünewald, A. (August 2019). MtDNA deletions discriminate affected from unaffected LRRK2 mutation carriers. Annals of Neurology, 86 (2), 324-326. doi:10.1002/ana.25510 Peer Reviewed verified by ORBi |
Grossmann, D., Berenguer, C., Bellet, M. E., Scheibner, D., Bohler, J., Massart, F., Rapaport, D., Skupin, A., Fouquier d'Hérouël, A., Sharma, M., Ghelfi, J., Rakovic, A., Lichtner, P., Antony, P., Glaab, E., May, P., Dimmer, K. S., Fitzgerald, J. C., Grünewald, A., & Krüger, R. (2019). Mutations in RHOT1 disrupt ER-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease. Antioxidants & redox signaling. doi:10.1089/ars.2018.7718 Peer reviewed |
Meiser, J., Delcambre, S., Wegner, A., Jäger, C., Ghelfi, J., Fouquier d'Hérouël, A., Dong, X., Weindl, D., Stautner, C., Nonnenmacher, Y., Michelucci, A., Popp, O., Giesert, F., Schildknecht, S., Kraemer, L., Schneider, J. G., Woitalla, D., Wurst, W., Skupin, A., ... Hiller, K. (2016). Loss of DJ-1 impairs antioxidant response by altered glutamine and serine metabolism. Neurobiology of Disease, 89, 112-125. doi:10.1016/j.nbd.2016.01.019 Peer Reviewed verified by ORBi |
Meiser, J., Kraemer, L., Sapcariu, S., Battello, N., Ghelfi, J., Fouquier d'Hérouël, A., Skupin, A., & Hiller, K. (2015). Pro-inflammatory macrophages sustain pyruvate oxidation through pyruvate dehydrogenase for the synthesis of itaconate and to enable cytokine expression. Journal of Biological Chemistry. doi:10.1074/jbc.M115.676817 Peer reviewed |
Jäger, C.* , Glaab, E.* , Michelucci, A.* , Binz, T., Köglsberger, S., Garcia, P., Trezzi, J.-P., Ghelfi, J., Balling, R., & Buttini, M. (2015). The Mouse Brain Metabolome: Region-Specific Signatures and Response to Excitotoxic Neuronal Injury. American Journal of Pathology, 185 (6), 1699-1712. doi:10.1016/j.ajpath.2015.02.016 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Sapcariu, S., Kanashova, T., Weindl, D., Ghelfi, J., Dittmar, G., & Hiller, K. (2014). Simultaneous extraction of proteins and metabolites from cells in culture. MethodsX. doi:10.1016/j.mex.2014.07.002 Peer Reviewed verified by ORBi |
Michelucci, A., Cordes, T., Ghelfi, J., Pailot, A., Reiling, N., Goldmann, O., Binz, T., Wegner, A., Tallam, A., Rausell, A., Buttini, M., Linster, C., Medina, E., Balling, R., & Hiller, K. (2013). Immune-responsive gene 1 protein links metabolism to immunity by catalyzing itaconic acid production. Proceedings of the National Academy of Sciences of the United States of America. doi:10.1073/pnas.1218599110 Peer Reviewed verified by ORBi |