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: | Yuval Gurfinkel, Nicole Polain, Krushna Sonar, Penelope Nice, Ricardo L. Mancera, Sarah Lyn Rea |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2022-11-01
|
Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996122002510 |
Similar Items
-
New Perspective on Parkinsonism in Frontotemporal Lobar Degeneration
by: Hee Kyung Park, et al.
Published: (2013-04-01) -
Neuropathology of frontotemporal lobar degeneration: A review
by: Valéria Santoro Bahia, et al. -
ALS-Related Mutant SOD1 Aggregates Interfere with Mitophagy by Sequestering the Autophagy Receptor Optineurin
by: Yeong Jin Tak, et al.
Published: (2020-10-01) -
OPTN-TBK1 axis and a role for PLK1 in HSV-1 infection
by: Ilina Bhattacharya, et al.
Published: (2023-12-01) -
HnRNP Pathologies in Frontotemporal Lobar Degeneration
by: Xinwa Jiang, et al.
Published: (2023-06-01)