Heterozygous <i>Tbk1</i> loss has opposing effects in early and late stages of ALS in mice.

Quantitative analyses revealed that the levels of aggregated p62 inside the remaining ChAT + MNs at P120 differed significantly between non-SOD1 G93A -transgenic and SOD1 G93A mice, but not between SOD1 G93A mice and SOD1 G93A /Tbk1 +/− mice, despite a nonsignificant trend toward a reduction in SOD1 G93A /Tbk1 +/− mice (P = 0.19; Fig. 3 H ).

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Using whole exome sequencing of fALS patients, we and others recently found an exome-wide, highly significant enrichment of mono-allelic TANK-binding kinase 1 ( TBK1 ) loss-of-function mutations in fALS and frontotemporal dementia (FTD) patients ( Cirulli et al., 2015 ; Freischmidt et al., 2015 ).

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