Ontology highlight
ABSTRACT:
SUBMITTER: Guo W
PROVIDER: S-EPMC3357956 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Nature structural & molecular biology 20110612 7
Mutations in TARDBP, encoding TAR DNA-binding protein-43 (TDP-43), are associated with TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). We compared wild-type TDP-43 and an ALS-associated mutant TDP-43 in vitro and in vivo. The A315T mutant enhances neurotoxicity and the formation of aberrant TDP-43 species, including protease-resistant fragments. The C terminus of TDP-43 shows sequence similarity to prion proteins. Synthetic pept ...[more]