Ontology highlight
ABSTRACT:
SUBMITTER: Murakami T
PROVIDER: S-EPMC3235006 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Murakami Tetsuro T Yang Seung-Pil SP Xie Lin L Kawano Taizo T Fu Donald D Mukai Asuka A Bohm Christopher C Chen Fusheng F Robertson Janice J Suzuki Hiroshi H Tartaglia Gian Gaetano GG Vendruscolo Michele M Kaminski Schierle Gabriele S GS Chan Fiona T S FT Moloney Aileen A Crowther Damian D Kaminski Clemens F CF Zhen Mei M St George-Hyslop Peter P
Human molecular genetics 20110923 1
It is unclear whether mutations in fused in sarcoma (FUS) cause familial amyotrophic lateral sclerosis via a loss-of-function effect due to titrating FUS from the nucleus or a gain-of-function effect from cytoplasmic overabundance. To investigate this question, we generated a series of independent Caenorhabditis elegans lines expressing mutant or wild-type (WT) human FUS. We show that mutant FUS, but not WT-FUS, causes cytoplasmic mislocalization associated with progressive motor dysfunction and ...[more]