Article
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Nature neuroscience - 1 May 2015
Freischmidt Axel, Wieland Thomas, Richter Benjamin, Ruf Wolfgang, Schaeffer Veronique, Müller Kathrin, Marroquin Nicolai, Nordin Frida, Hübers Annemarie, Weydt Patrick, Pinto Susana, Press Rayomond, Millecamps Stéphanie, Molko Nicolas, Bernard Emilien, Desnuelle Claude, Soriani Marie-Hélène, Dorst Johannes, Graf Elisabeth, Nordström Ulrika, Feiler Marisa S, Putz Stefan, Boeckers Tobias M, Meyer Thomas, Winkler Andrea S, Winkelman Juliane, de Carvalho Mamede, Thal Dietmar R, Otto Markus, Brännström Thomas, Volk Alexander E, Kursula Petri, Danzer Karin M, Lichtner Peter, Dikic Ivan, Meitinger Thomas, Ludolph Albert C, Strom Tim M, Andersen Peter M, Weishaupt Jochen H
Abstract excerpt
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....
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