TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Mechanistic Insights into Impaired Autophagy and Proteostatic Failure - PubMed
6 hours ago
- #FTD
- #ALS
- #TBK1
- TBK1 mutations are a significant genetic link in ALS and FTD.
- TBK1 is a multifunctional kinase that regulates the autophagy-lysosome pathway.
- The review explores how TBK1 mutations disrupt autophagy processes.
- Mutations range from truncating variants to domain-specific missense mutations.
- The study highlights impaired autophagy and proteostatic failure in ALS/FTD.