Ontology highlight
ABSTRACT:
SUBMITTER: Hautbergue GM
PROVIDER: S-EPMC5504286 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Hautbergue Guillaume M GM Castelli Lydia M LM Ferraiuolo Laura L Sanchez-Martinez Alvaro A Cooper-Knock Johnathan J Higginbottom Adrian A Lin Ya-Hui YH Bauer Claudia S CS Dodd Jennifer E JE Myszczynska Monika A MA Alam Sarah M SM Garneret Pierre P Chandran Jayanth S JS Karyka Evangelia E Stopford Matthew J MJ Smith Emma F EF Kirby Janine J Meyer Kathrin K Kaspar Brian K BK Isaacs Adrian M AM El-Khamisy Sherif F SF De Vos Kurt J KJ Ning Ke K Azzouz Mimoun M Whitworth Alexander J AJ Shaw Pamela J PJ
Nature communications 20170705
Hexanucleotide repeat expansions in the C9ORF72 gene are the commonest known genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Expression of repeat transcripts and dipeptide repeat proteins trigger multiple mechanisms of neurotoxicity. How repeat transcripts get exported from the nucleus is unknown. Here, we show that depletion of the nuclear export adaptor SRSF1 prevents neurodegeneration and locomotor deficits in a Drosophila model of C9ORF72-related disease. This int ...[more]