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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.
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R. Boussaad I, et al. Among authors: grossmann d. Sci Transl Med. 2020 Sep 9;12(560):eaau3960. doi: 10.1126/scitranslmed.aau3960. Sci Transl Med. 2020. PMID: 32908004
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.
Mitochondria interaction networks show altered topological patterns in Parkinson's disease.
Zanin M, Santos BFR, Antony PMA, Berenguer-Escuder C, Larsen SB, Hanss Z, Barbuti PA, Baumuratov AS, Grossmann D, Capelle CM, Weber J, Balling R, Ollert M, Krüger R, Diederich NJ, He FQ. Zanin M, et al. Among authors: grossmann d. NPJ Syst Biol Appl. 2020 Nov 10;6(1):38. doi: 10.1038/s41540-020-00156-4. NPJ Syst Biol Appl. 2020. PMID: 33173039 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.
66 results