Barbuti, P. A., Ohnmacht, J., Santos, B. F., Antony, P., Massart, F., Cruciani, G., Dording, C. M., Pavelka, L., Casadei, N., Kwon, Y.-J., & Krüger, R. (09 November 2021). Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function. Scientific Reports, 11, 21946. doi:10.1038/s41598-021-01505-x Peer Reviewed verified by ORBi |
Hanss, Z., Larsen, S., Antony, P., Mencke, P., Massart, F., Jarazo, J., Schwamborn, J. C., Barbuti, P., Mellick, G., & Krüger, R. (2020). Mitochondrial and Clearance Impairment in p.D620N VPS35 Patient-Derived Neurons. Movement Disorders. doi:10.1002/mds.28365 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. |
Barbuti, P., Santos, B., Dording, C., Cruciani, G., Massart, F., Hummel, A., & Krüger, R. (October 2020). Generation of two iPS cell lines (HIHDNDi001-A and HIHDNDi001-B) from a Parkinson's disease patient carrying the heterozygous p.A30P mutation in SNCA. Stem Cell Research, 48, 101951. doi:10.1016/j.scr.2020.101951 Peer Reviewed verified by ORBi |
Larsen, S., Hanss, Z., Cruciani, G., Massart, F., Barbuti, P., Mellick, G., & Krüger, R. (2020). Induced pluripotent stem cell line (LCSBi001-A) derived from a patient with Parkinson's disease carrying the p.D620N mutation in VPS35. Stem Cell Research. doi:10.1016/j.scr.2020.101776 Peer Reviewed verified by ORBi |
Barbuti, P., Antony, P., Rodrigues Santos, B., Massart, F., Cruciani, G., Dording, C., Arias, J., Schwamborn, J. C., & Krüger, R. (2020). Using High-Content Screening to Generate Single-Cell Gene-Corrected Patient-Derived iPS Clones Reveals Excess Alpha-Synuclein with Familial Parkinson's Disease Point Mutation A30P. Cells, 9 (9). doi:10.3390/cells9092065 Peer Reviewed verified by ORBi |
Berenguer-Escuder, C., Grossmann, D., Antony, P., Arena, G., Wasner, K., Massart, F., Jarazo, J., Walter, J., Schwamborn, J. C., Grünewald, A., & Krüger, R. (2020). Impaired Mitochondrial-Endoplasmic Reticulum Interaction and Mitophagy in Miro1-Mutant Neurons in Parkinson’s Disease. Human Molecular Genetics. doi:10.1093/hmg/ddaa066 Peer Reviewed verified by ORBi |
Berenguer, C., Grossmann, D., Massart, F., Antony, P., Burbulla, L., Glaab, E., Imhoff, S., Trinh, J., Seibler, P., Grünewald, A., & Krüger, R. (2019). Variants in Miro1 cause alterations of ER-mitochondria contact sites in fibroblasts from Parkinson's disease patients. Journal of Clinical Medicine. doi:10.3390/jcm8122226 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 |