Article
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Nature communications - 26 Mar 2021
Inak Gizem, Rybak-Wolf Agnieszka, Lisowski Pawel, Pentimalli Tancredi M, Jüttner René, Glažar Petar, Uppal Karan, Bottani Emanuela, Brunetti Dario, Secker Christopher, Zink Annika, Meierhofer David, Henke Marie-Thérèse, Dey Monishita, Ciptasari Ummi, Mlody Barbara, Hahn Tobias, Berruezo-Llacuna Maria, Karaiskos Nikos, Di Virgilio Michela, Mayr Johannes A, Wortmann Saskia B, Priller Josef, Gotthardt Michael, Jones Dean P, Mayatepek Ertan, Stenzel Werner, Diecke Sebastian, Kühn Ralf, Wanker Erich E, Rajewsky Nikolaus, Schuelke Markus, Prigione Alessandro
Abstract excerpt
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is currently incurable. The lack of effective models hampers our understanding of the mechanisms underlying the neuronal pathology of LS. Using patient-derived induced pluripotent stem cells and CRISPR/Cas9 engineering, we developed a human model of LS caused by mutations in the complex IV assembly gene SURF1. Single-cell...
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