Nature Communications (Mar 2021)
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
- Gizem Inak,
- Agnieszka Rybak-Wolf,
- Pawel Lisowski,
- Tancredi M. Pentimalli,
- René Jüttner,
- Petar Glažar,
- Karan Uppal,
- Emanuela Bottani,
- Dario Brunetti,
- Christopher Secker,
- Annika Zink,
- David Meierhofer,
- Marie-Thérèse Henke,
- Monishita Dey,
- Ummi Ciptasari,
- Barbara Mlody,
- Tobias Hahn,
- Maria Berruezo-Llacuna,
- Nikos Karaiskos,
- Michela Di Virgilio,
- Johannes A. Mayr,
- Saskia B. Wortmann,
- Josef Priller,
- Michael Gotthardt,
- Dean P. Jones,
- Ertan Mayatepek,
- Werner Stenzel,
- Sebastian Diecke,
- Ralf Kühn,
- Erich E. Wanker,
- Nikolaus Rajewsky,
- Markus Schuelke,
- Alessandro Prigione
Affiliations
- Gizem Inak
- Max Delbrück Center for Molecular Medicine (MDC)
- Agnieszka Rybak-Wolf
- Berlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC)
- Pawel Lisowski
- Max Delbrück Center for Molecular Medicine (MDC)
- Tancredi M. Pentimalli
- Berlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC)
- René Jüttner
- Max Delbrück Center for Molecular Medicine (MDC)
- Petar Glažar
- Berlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC)
- Karan Uppal
- Emory University
- Emanuela Bottani
- Department of Diagnostics and Public Health, University of Verona
- Dario Brunetti
- Mitochondrial Medicine Laboratory, Department of Medical Biotechnology and Translational Medicine, University of Milan
- Christopher Secker
- Max Delbrück Center for Molecular Medicine (MDC)
- Annika Zink
- Max Delbrück Center for Molecular Medicine (MDC)
- David Meierhofer
- Max Planck Institute for Molecular Genetics
- Marie-Thérèse Henke
- Max Delbrück Center for Molecular Medicine (MDC)
- Monishita Dey
- Max Delbrück Center for Molecular Medicine (MDC)
- Ummi Ciptasari
- Max Delbrück Center for Molecular Medicine (MDC)
- Barbara Mlody
- Max Delbrück Center for Molecular Medicine (MDC)
- Tobias Hahn
- Max Delbrück Center for Molecular Medicine (MDC)
- Maria Berruezo-Llacuna
- Max Delbrück Center for Molecular Medicine (MDC)
- Nikos Karaiskos
- Berlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC)
- Michela Di Virgilio
- Max Delbrück Center for Molecular Medicine (MDC)
- Johannes A. Mayr
- University Children’s Hospital, Paracelsus Medical University (PMU)
- Saskia B. Wortmann
- University Children’s Hospital, Paracelsus Medical University (PMU)
- Josef Priller
- Charité - Universitätsmedizin Berlin, Department of Neuropsychiatry
- Michael Gotthardt
- Max Delbrück Center for Molecular Medicine (MDC)
- Dean P. Jones
- Emory University
- Ertan Mayatepek
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Medical Faculty, Heinrich Heine University
- Werner Stenzel
- Charité – Universitätsmedizin, Department of Neuropathology
- Sebastian Diecke
- Max Delbrück Center for Molecular Medicine (MDC)
- Ralf Kühn
- Max Delbrück Center for Molecular Medicine (MDC)
- Erich E. Wanker
- Max Delbrück Center for Molecular Medicine (MDC)
- Nikolaus Rajewsky
- Berlin Institute for Medical Systems Biology (BIMSB), Max Delbrück Center for Molecular Medicine (MDC)
- Markus Schuelke
- Charité - Universitätsmedizin Berlin, Department of Neuropediatrics
- Alessandro Prigione
- Max Delbrück Center for Molecular Medicine (MDC)
- DOI
- https://doi.org/10.1038/s41467-021-22117-z
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 22
Abstract
Leigh syndrome (LS) is a severe neurometabolic disorder which lacks effective models. Here, the authors developed human neuronal models of LS carrying mutations in SURF1 which show impaired neuronal morphogenesis due to metabolic deficiencies.
