Ontology highlight
ABSTRACT:
SUBMITTER: Winton MJ
PROVIDER: S-EPMC2478749 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
FEBS letters 20080527 15
TAR DNA-binding protein-43 (TDP-43) is a highly conserved, ubiquitously expressed nuclear protein that was recently identified as the disease protein in frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) and amyotrophic lateral sclerosis (ALS). Pathogenic TDP-43 gene (TARDBP) mutations have been identified in familial ALS kindreds, and here we report a TARDBP variant (A90V) in a FTLD/ALS patient with a family history of dementia. Significantly, A90V is located between ...[more]