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1.	Freischmidt, Axel, et al. (author) Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia 2015 In: Nature Neuroscience. - : Springer Science and Business Media LLC. - 1097-6256 .- 1546-1726. ; 18:5, s. 631- Journal article (peer-reviewed)abstract Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees. No enrichment of LoF mutations was observed in a targeted mutation screen of 1,010 sporadic ALS and 650 additional control individuals. Linkage analysis in four families gave an aggregate LOD score of 4.6. In vitro experiments confirmed the loss of expression of TBK1 LoF mutant alleles, or loss of interaction of the C-terminal TBK1 coiled-coil domain (CCD2) mutants with the TBK1 adaptor protein optineurin, which has been shown to be involved in ALS pathogenesis. We conclude that haploinsufficiency of TBK1 causes ALS and fronto-temporal dementia.
2.	Mueller, Kathrin, et al. (author) Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease 2014 In: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 137:12, s. e309- Journal article (peer-reviewed)

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Type of publication: journal article (2)

Type of content: peer-reviewed (2)

Author/Editor: Volk, Alexander E. (2); Meitinger, Thomas (2); Ludolph, Albert C. (2); Weishaupt, Jochen H. (2); Strom, Tim M. (2); Danzer, Karin M. (2); show more...; Mueller, Kathrin (2); Huebers, Annemarie (2); Marroquin, Nicolai (2); Otto, Markus (1); Andersen, Peter M. (1); de Carvalho, Mamede (1); Pinto, Susana (1); Brännström, Thomas (1); Desnuelle, Claude (1); Meyer, Thomas (1); Weydt, Patrick (1); Thal, Dietmar R (1); Andersen, Peter (1); Nordström, Ulrika (1); Dorst, Johannes (1); Wieland, Thomas (1); Dikic, Ivan (1); Freischmidt, Axel (1); Ruf, Wolfgang (1); Lichtner, Peter (1); Kursula, Petri (1); Boeckers, Tobias M (1); Nordin, Frida (1); Richter, Benjamin (1); Schaeffer, Veronique (1); Press, Rayomond (1); Millecamps, Stephani ... (1); Molko, Nicolas (1); Bernard, Emilien (1); Soriani, Marie-Helen ... (1); Graf, Elisabeth (1); Feiler, Marisa S. (1); Putz, Stefan (1); Winkler, Andrea S. (1); Winkelman, Juliane (1); show less...

University: Umeå University (2)Undo refine; Karolinska Institutet (1)

Language: English (2)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

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