Browsing Centre for Neuroscience, Surgery and Trauma by Subject "TBK1"

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    • ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function 

      de Majo, M; Topp, SD; Smith, BN; Nishimura, AL; Chen, H-J; Gkazi, AS; Miller, J; Wong, CH; Vance, C; Baas, F (Elsevier, 2018-06-25)
      Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are ...