Ontology highlight
ABSTRACT:
SUBMITTER: Benjamin Ryskeldi-Falcon
PROVIDER: EMPIAR-11438 | biostudies-other |
REPOSITORIES: biostudies-other
Nature 20230802 7975
The abnormal assembly of TAR DNA-binding protein 43 (TDP-43) in neuronal and glial cells characterizes nearly all cases of amyotrophic lateral sclerosis (ALS) and around half of cases of frontotemporal lobar degeneration (FTLD)<sup>1,2</sup>. A causal role for TDP-43 assembly in neurodegeneration is evidenced by dominantly inherited missense mutations in TARDBP, the gene encoding TDP-43, that promote assembly and give rise to ALS and FTLD<sup>3-7</sup>. At least four types (A-D) of FTLD with TDP ...[more]