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Mutations in RHOT1 Disrupt Endoplasmic Reticulum-Mitochondria Contact Sites Interfering with Calcium Homeostasis and Mitochondrial Dynamics in Parkinson's Disease.
Grossmann D, Berenguer-Escuder C, Bellet ME, Scheibner D, Bohler J, Massart F, Rapaport D, Skupin A, Fouquier d'Hérouël A, Sharma M, Ghelfi J, Raković A, Lichtner P, Antony P, Glaab E, May P, Dimmer KS, Fitzgerald JC, Grünewald A, Krüger R. Grossmann D, et al. Antioxid Redox Signal. 2019 Dec 1;31(16):1213-1234. doi: 10.1089/ars.2018.7718. Epub 2019 Aug 21. Antioxid Redox Signal. 2019. PMID: 31303019 Free PMC article.
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
Neumann MA, 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. Neumann MA, et al. Among authors: grossmann d. Sci Rep. 2020 Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4. Sci Rep. 2020. PMID: 33028849 Free PMC article.
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.1290A > G (p.T351A) or c.2067A > G (p.T610A) in the RHOT1 gene encoding Miro1.
Chemla A, Arena G, Saraiva C, Berenguer-Escuder C, Grossmann D, Grünewald A, Klein C, Seibler P, Schwamborn JC, Krüger R. Chemla A, et al. Among authors: grossmann d. Stem Cell Res. 2023 Jun;69:103085. doi: 10.1016/j.scr.2023.103085. Epub 2023 Mar 25. Stem Cell Res. 2023. PMID: 37003181 Free PMC article.
Generation of two induced pluripotent stem cell lines and the corresponding isogenic controls from Parkinson's disease patients carrying the heterozygous mutations c.815G > A (p.R272Q) or c.1348C > T (p.R450C) in the RHOT1 gene encoding Miro1.
Chemla A, Arena G, Onal G, Walter J, Berenguer-Escuder C, Grossmann D, Grünewald A, Schwamborn JC, Krüger R. Chemla A, et al. Among authors: grossmann d. Stem Cell Res. 2023 Sep;71:103145. doi: 10.1016/j.scr.2023.103145. Epub 2023 Jun 14. Stem Cell Res. 2023. PMID: 37364399 Free article.
Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons.
Zimyanin VL, Pielka AM, Glaß H, Japtok J, Großmann D, Martin M, Deussen A, Szewczyk B, Deppmann C, Zunder E, Andersen PM, Boeckers TM, Sterneckert J, Redemann S, Storch A, Hermann A. Zimyanin VL, et al. Among authors: grossmann d. Cells. 2023 May 9;12(10):1352. doi: 10.3390/cells12101352. Cells. 2023. PMID: 37408187 Free PMC article.
Increased Vulnerability to Ferroptosis in FUS-ALS.
Ismail M, Großmann D, Hermann A. Ismail M, et al. Among authors: grossmann d. Biology (Basel). 2024 Mar 26;13(4):215. doi: 10.3390/biology13040215. Biology (Basel). 2024. PMID: 38666827 Free PMC article.
67 results