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

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 missense with unknown functional effects. We exome sequenced 699 familial amyo...

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Main Authors:	De Majo, M, Topp, SD, Smith, BN, Nishimura, AL, Chen, H-J, Gkazi, AS, Miller, J, Wong, CH, Vance, C, Baas, F, Asbroek, ALMA, Kenna, KP, Ticozzi, N, Redondo, AG, Esteban-Pérez, J, Tiloca, C, Verde, F, Duga, S, Morrison, KE, Shaw, PJ, Kirby, J, Turner, MR, Talbot, K, Hardiman, O, Glass, JD, De Belleroche, J, Gellera, C, Ratti, A, Al-Chalabi, A, Brown, RH, Silani, V, Landers, JE, Shaw, CE
Format:	Journal article
Language:	English
Published:	Elsevier 2018

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

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