Ontology highlight
ABSTRACT:
SUBMITTER: Bosco DA
PROVIDER: S-EPMC2981014 | biostudies-literature | 2010 Nov
REPOSITORIES: biostudies-literature
Bosco Daryl A DA Lemay Nathan N Ko Hae Kyung HK Zhou Hongru H Burke Chris C Kwiatkowski Thomas J TJ Sapp Peter P McKenna-Yasek Diane D Brown Robert H RH Hayward Lawrence J LJ
Human molecular genetics 20100810 21
Mutations in the RNA-binding protein FUS (fused in sarcoma) are linked to amyotrophic lateral sclerosis (ALS), but the mechanism by which these mutants cause motor neuron degeneration is not known. We report a novel ALS truncation mutant (R495X) that leads to a relatively severe ALS clinical phenotype compared with FUS missense mutations. Expression of R495X FUS, which abrogates a putative nuclear localization signal at the C-terminus of FUS, in HEK-293 cells and in the zebrafish spinal cord cau ...[more]