Article
Functional Significance of TDP-43 Mutations in Disease.
Advances in genetics - 1 Jan 2015
Buratti Emanuele
Abstract excerpt
At present, there are very few therapeutic options for patients affected by amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by ALS or tau-negative FTD share in their brains the presence of aggregated TDP-43, a nuclear factor that plays an important role in regulating RNA metabolism. For this reason, this protein represents a very promising target to...
Topics
- Animals
- DNA-Binding Proteins
- Humans
- Mutation
- Neurodegenerative Diseases