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
[en] Fibroblasts from two Parkinson’s disease (PD) patients carrying either the heterozygous mutation c.815G>A (Miro1 p.R272Q) or c.1348C>T (Miro1 p.R450C) in the RHOT1 gene, were converted into induced pluripotent stem cells (iPSCs) using RNA-based and episomal reprogramming, respectively. The corresponding isogenic gene-corrected lines have been generated using CRISPR/Cas9 technology. These two isogenic pairs will be used to study Miro1-related molecular mechanisms underlying neurodegeneration in relevant iPSC-derived neuronal models (e.g., midbrain dopaminergic neurons and astrocytes).
Disciplines :
Biochimie, biophysique & biologie moléculaire
Auteur, co-auteur :
CHEMLA, Axel ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
ARENA, Giuseppe ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
Onal, Gizem
Walter, Jonas
Berenguer-Escuder, Clara
Grossmann, Dajana
GRÜNEWALD, Anne ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Molecular and Functional Neurobiology
SCHWAMBORN, Jens Christian ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Developmental and Cellular Biology
KRÜGER, Rejko ; University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > Translational Neuroscience
Co-auteurs externes :
yes
Langue du document :
Anglais
Titre :
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
Berenguer-Escuder, C., Grossmann, D., Massart, F., Antony, P., Burbulla, L.F., Glaab, E., Imhoff, S., Trinh, J., Seibler, P., Grünewald, A., Krüger, R., Variants in Miro1 cause alterations of ER-mitochondria contact sites in fibroblasts from Parkinson's disease patients. J. Clin. Med., 8(12), 2019, 2226.
Berenguer-Escuder, C., Grossmann, D., Antony, P., Arena, G., Wasner, K., Massart, F., et al. Impaired mitochondrial-endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson's disease. Hum. Mol. Genet. 29 (2020), 1353–1364, 10.1093/hmg/ddaa066.
Grossmann, D., Berenguer-Escuder, C., Bellet, M.E., 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, K.S., Fitzgerald, J.C., Grünewald, A., Krüger, R., Mutations in RHOT1 disrupt endoplasmic reticulum-mitochondria contact sites interfering with calcium homeostasis and mitochondrial dynamics in Parkinson's disease. Antioxid. Redox Signal. 31:16 (2019), 1213–1234.
Grossmann, D., Berenguer-Escuder, C., Chemla, A., Arena, G., Kruger, R., The emerging role of RHOT1/Miro1 in the pathogenesis of Parkinson's disease. Front. Neurol., 11, 2020, 587, 10.3389/fneur.2020.00587.
