Ontology highlight
ABSTRACT:
SUBMITTER: Berson A
PROVIDER: S-EPMC6487524 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Berson Amit A Goodman Lindsey D LD Sartoris Ashley N AN Otte Charlton G CG Aykit James A JA Lee Virginia M-Y VM Trojanowski John Q JQ Bonini Nancy M NM
Acta neuropathologica communications 20190429 1
RNA-binding proteins (RBPs) are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the underlying disease mechanisms remain unclear. In an unbiased screen in Drosophila for RBPs that genetically interact with TDP-43, we found that downregulation of the mRNA export factor Ref1 (fly orthologue to human ALYREF) mitigated TDP-43 induced toxicity. Further, Ref1 depletion also reduced toxicity caused by expression of the C9orf72 GGGGCC repeat expansion. Ref1 kno ...[more]