Functional and structural consequences of TBK1 missense variants in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Mutations in the Tank-binding kinase 1 (TBK1) gene were identified in 2015 in individuals with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). They account for ∼3–4% of cases. To date, over 100 distinct mutations, including missense, nonsense, deletion, insertion, d...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2022-11-01
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Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996122002510 |