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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

The authors show that haploinsufficiency of TBK1 causes familial forms of the neurodegenerative diseases ALS and FTD. Loss of binding of a TBK1 protein interaction domain to optineurin, a protein previously linked to ALS, is sufficient to cause the disease. Both proteins regulate autophagy and infla...

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Main Authors: Freischmidt, Axel (Author) , Wieland, Thomas (Author) , Richter, Benjamin (Author) , Ruf, Wolfgang (Author) , Schaeffer, Veronique (Author) , Müller, Kathrin (Author) , Marroquin, Nicolai (Author) , Nordin, Frida (Author) , Hübers, Annemarie (Author) , Weydt, Patrick (Author) , Pinto, Susana (Author) , Press, Rayomond (Author) , Millecamps, Stéphanie (Author) , Molko, Nicolas (Author) , Bernard, Emilien (Author) , Desnuelle, Claude (Author) , Soriani, Marie-Hélène (Author) , Dorst, Johannes (Author) , Graf, Elisabeth (Author) , Nordström, Ulrika (Author) , Feiler, Marisa S. (Author) , Putz, Stefan (Author) , Böckers, Tobias M. (Author) , Meyer, Thomas (Author) , Winkler, Andrea S. (Author) , Winkelman, Juliane (Author) , de Carvalho, Mamede (Author) , Thal, Dietmar R. (Author) , Otto, Markus (Author) , Brännström, Thomas (Author) , Volk, Alexander E. (Author) , Kursula, Petri (Author) , Danzer, Karin M. (Author) , Lichtner, Peter (Author) , Dikic, Ivan (Author) , Meitinger, Thomas (Author) , Ludolph, Albert C. (Author) , Strom, Tim M. (Author) , Andersen, Peter M. (Author) , Weishaupt, Jochen H. (Author)
Format: Article (Journal)
Language:English
Published: 24 March 2015
In: Nature neuroscience
Year: 2015, Volume: 18, Issue: 5, Pages: 631-636
ISSN:1546-1726
DOI:10.1038/nn.4000
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/nn.4000
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/nn.4000
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Author Notes:Axel Freischmidt, Thomas Wieland, Benjamin Richter, Wolfgang Ruf, Veronique Schaeffer, Kathrin Müller, Nicolai Marroquin, Frida Nordin, Annemarie Hübers, Patrick Weydt, Susana Pinto, Rayomond Press, Stéphanie Millecamps, Nicolas Molko, Emilien Bernard, Claude Desnuelle, Marie-Hélène Soriani, Johannes Dorst, Elisabeth Graf, Ulrika Nordström, Marisa S Feiler, Stefan Putz, Tobias M Boeckers, Thomas Meyer, Andrea S Winkler, Juliane Winkelman, Mamede de Carvalho, Dietmar R Thal, Markus Otto, Thomas Brännström, Alexander E. Volk, Petri Kursula, Karin M. Danzer, Peter Lichtner, Ivan Dikic, Thomas Meitinger, Albert C Ludolph, Tim M. Strom, Peter M Andersen & Jochen H Weishaupt
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Summary:The authors show that haploinsufficiency of TBK1 causes familial forms of the neurodegenerative diseases ALS and FTD. Loss of binding of a TBK1 protein interaction domain to optineurin, a protein previously linked to ALS, is sufficient to cause the disease. Both proteins regulate autophagy and inflammation.
Item Description:Gesehen am 16.06.2021
Physical Description:Online Resource
ISSN:1546-1726
DOI:10.1038/nn.4000

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