Ontology highlight
ABSTRACT:
SUBMITTER: Rutherford NJ
PROVIDER: S-EPMC2527686 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Rutherford Nicola J NJ Zhang Yong-Jie YJ Baker Matt M Gass Jennifer M JM Finch Nicole A NA Xu Ya-Fei YF Stewart Heather H Kelley Brendan J BJ Kuntz Karen K Crook Richard J P RJ Sreedharan Jemeen J Vance Caroline C Sorenson Eric E Lippa Carol C Bigio Eileen H EH Geschwind Daniel H DH Knopman David S DS Mitsumoto Hiroshi H Petersen Ronald C RC Cashman Neil R NR Hutton Mike M Shaw Christopher E CE Boylan Kevin B KB Boeve Bradley B Graff-Radford Neill R NR Wszolek Zbigniew K ZK Caselli Richard J RJ Dickson Dennis W DW Mackenzie Ian R IR Petrucelli Leonard L Rademakers Rosa R
PLoS genetics 20080919 9
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions (FTLD-U), defining a novel class of neurodegenerative conditions: the TDP-43 proteinopathies. The first pathogenic mutations in the gene encoding TDP-43 (TARDBP) were recently reported in familial and sporadic ALS patients, supporting a direct role for TDP-43 in neurodegeneration. In this study, we report t ...[more]