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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: grunewald a. 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.
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: grunewald a. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
3D Cultures of Parkinson's Disease-Specific Dopaminergic Neurons for High Content Phenotyping and Drug Testing.
Bolognin S, Fossépré M, Qing X, Jarazo J, Ščančar J, Moreno EL, Nickels SL, Wasner K, Ouzren N, Walter J, Grünewald A, Glaab E, Salamanca L, Fleming RMT, Antony PMA, Schwamborn JC. Bolognin S, et al. Among authors: grunewald a. Adv Sci (Weinh). 2018 Nov 20;6(1):1800927. doi: 10.1002/advs.201800927. eCollection 2019 Jan 9. Adv Sci (Weinh). 2018. PMID: 30643711 Free PMC article.
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. Among authors: grunewald a. 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.
149 results